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Cellosaurus GM10309 (CVCL_W010)

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Cell line name GM10309
Synonyms GM10309A
Accession CVCL_W010
Resource Identification Initiative To cite this cell line use: GM10309 (RRID:CVCL_W010)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Val550Met (c.1648G>A); ClinVar=VCV000001911; Zygosity=Heterozygous (Coriell=GM10309).
  • Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Arg565Ter (c.1693C>T); ClinVar=VCV000426486; Zygosity=Heterozygous (Coriell=GM10309).
Disease Holocarboxylase synthetase deficiency (NCIt: C98842)
Holocarboxylase synthetase deficiency (ORDO: Orphanet_79242)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4M
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM10309
Cell line databases/resources CLO; CLO_0029042
Biological sample resources BioSample; SAMN00799908
Encyclopedic resources Wikidata; Q54844370
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17