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Cellosaurus GM02109 (CVCL_W621)

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Cell line name GM02109
Synonyms GM-2109; GM 2109; GM02109B
Accession CVCL_W621
Resource Identification Initiative To cite this cell line use: GM02109 (RRID:CVCL_W621)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Arg65Ter (c.193C>T); ClinVar=VCV000558291; Zygosity=Heterozygous (Coriell=GM02109).
  • Mutation; HGNC; HGNC:6617; LIPA; Simple; p.His86Tyr (c.256C>T); ClinVar=VCV000555658; Zygosity=Heterozygous (Coriell=GM02109).
Disease Wolman disease (NCIt: C61271)
Wolman disease (ORDO: Orphanet_75233)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3M
Category Finite cell line
Publications

PubMed=6782865; PMCID=PMC1684950
Barbara K. Burton, Suzanne P. Reed;
Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.
Am. J. Hum. Genet. 33:203-208(1981)

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; GM02109
Cell line databases/resources CLO; CLO_0031819
Biological sample resources BioSample; SAMN00807492
Encyclopedic resources Wikidata; Q54837304
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number19