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Cellosaurus GM03816 (CVCL_F193)

[Text version]
Cell line name GM03816
Synonyms GM-3816
Accession CVCL_F193
Resource Identification Initiative To cite this cell line use: GM03816 (RRID:CVCL_F193)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[330]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM03816).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[380]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM03816).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F192 (GM23404)
Sex of cell Female
Age at sampling 36Y
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)

PubMed=28444186; DOI=10.1093/hmg/ddx141; PMCID=PMC6251520
Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan L. Perlman, Gino A. Cortopassi;
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Hum. Mol. Genet. 26:2627-2633(2017)

Cross-references
Cell line collections (Providers) Coriell; GM03816
Cell line databases/resources CLO; CLO_0015531
Biological sample resources BioSample; SAMN00808548
Encyclopedic resources Wikidata; Q54838252
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number18