Component

SLC44A1 frameshift-mutant patient fibroblasts in the 2020 study

SLC44A1 frameshift-mutant patient fibroblasts in the 2020 study. Species, exposure and limitations are retained in each linked claim.

2 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

Read recorded mechanisms Open recursive mind map

How nutrients influence it

Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.

How nutrients reach it in more than one step

Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.

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What it does

Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.

Recorded relationships

What it acts on

  1. Membrane phosphatidylcholine content remained unchanged in the mutant fibroblasts.

    SLC44A1 frameshift-mutant patient fibroblasts in the 2020 study → Membrane phosphatidylcholine content in SLC44A1 patient fibroblasts source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/choline-research/31855247.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19", "start_char": 0, "end_char": 1785, "text_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19"}
    experimental_model
    Four individuals, three families; patient-fibroblast transport and rescue
    exposure
    SLC44A1 frameshift genotypes, chronic choline treatment and acute iron challenge
    limitations
    Cell rescue is not a demonstrated clinical treatment. Preserved PC content coexisted with disturbed other lipids and organelles. The linked issue-wide erratum corrected publication year to 2020, not these biological findings (PMID 32333675; doi:10.1093/brain/awaa007).
    nutrient_topic
    Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
    organism
    Human
    plain_language
    A preserved membrane PC measurement did not exclude a choline-handling defect.
    primary_references
    [choline-p31855247] Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. (2020). https://pubmed.ncbi.nlm.nih.gov/31855247/ DOI: 10.1093/brain/awz376
    tissue_or_cell_type
    Patient fibroblasts; clinical neurodegeneration
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 373–384

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Four individuals, three families; patient-fibroblast transport and rescue · source_derived_draft · unverified_draft

    ### choline-ctl1-pc-preserved Membrane phosphatidylcholine content remained unchanged in the mutant fibroblasts. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: A preserved membrane PC measurement did not exclude a choline-handling defect. organism: Human tissue_or_cell_type: Patient fibroblasts; clinical neurodegeneration experimental_model: Four individuals, three families; patient-fibroblast transport and rescue limitations: Cell rescue is not a demonstrated clinical treatment. Preserved PC content coexisted with disturbed other lipids and organelles. The linked issue-wide erratum corrected publication year to 2020, not these biological findings (PMID 32333675; doi:10.1093/brain/awaa007). exposure: SLC44A1 frameshift genotypes, chronic choline treatment and acute iron challenge evidence_span: {"source_cache": "artifacts/choline-research/31855247.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19", "start_char": 0, "end_char": 1785, "text_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19"} [choline-p31855247] Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. (2020). https://pubmed.ncbi.nlm.nih.gov/31855247/ DOI: 10.1093/brain/awz376
    Complete structured claim and evidence

  2. Patient fibroblasts had diminished choline transport.

    SLC44A1 frameshift-mutant patient fibroblasts in the 2020 study → Human cellular choline uptake source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/choline-research/31855247.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19", "start_char": 0, "end_char": 1785, "text_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19"}
    experimental_model
    Four individuals, three families; patient-fibroblast transport and rescue
    exposure
    SLC44A1 frameshift genotypes, chronic choline treatment and acute iron challenge
    limitations
    Cell rescue is not a demonstrated clinical treatment. Preserved PC content coexisted with disturbed other lipids and organelles. The linked issue-wide erratum corrected publication year to 2020, not these biological findings (PMID 32333675; doi:10.1093/brain/awaa007).
    nutrient_topic
    Choline research collection; topical membership is not evidence of a direct dietary effect. · Choline
    organism
    Human
    plain_language
    Transport failed even though not every downstream concentration fell.
    primary_references
    [choline-p31855247] Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. (2020). https://pubmed.ncbi.nlm.nih.gov/31855247/ DOI: 10.1093/brain/awz376
    tissue_or_cell_type
    Patient fibroblasts; clinical neurodegeneration
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Choline: metabolism, signaling and nutrient connections (2026-09-17) · lines 360–371

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Four individuals, three families; patient-fibroblast transport and rescue · source_derived_draft · unverified_draft

    ### choline-ctl1-uptake Patient fibroblasts had diminished choline transport. Condition category: machinery_impairment nutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect. plain_language: Transport failed even though not every downstream concentration fell. organism: Human tissue_or_cell_type: Patient fibroblasts; clinical neurodegeneration experimental_model: Four individuals, three families; patient-fibroblast transport and rescue limitations: Cell rescue is not a demonstrated clinical treatment. Preserved PC content coexisted with disturbed other lipids and organelles. The linked issue-wide erratum corrected publication year to 2020, not these biological findings (PMID 32333675; doi:10.1093/brain/awaa007). exposure: SLC44A1 frameshift genotypes, chronic choline treatment and acute iron challenge evidence_span: {"source_cache": "artifacts/choline-research/31855247.abstract.txt", "locator": "Primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19", "start_char": 0, "end_char": 1785, "text_sha256": "34cbef18c0e83c0bcd06954a1d81d7329825171b5ecac31f8ea19b2457543f19"} [choline-p31855247] Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. (2020). https://pubmed.ncbi.nlm.nih.gov/31855247/ DOI: 10.1093/brain/awz376
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

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