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Cellosaurus GM20015 (CVCL_8A69)

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Cell line name GM20015
Accession CVCL_8A69
Resource Identification Initiative To cite this cell line use: GM20015 (RRID:CVCL_8A69)
Comments Population: Tunisian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Tyr36Cys (c.107A>G) (p.Tyr52Cys, c.155A>G); ClinVar=VCV000000093; Zygosity=Homozygous (Coriell=GM20015).
Disease Farber lipogranulomatosis (NCIt: C84710)
Farber disease (ORDO: Orphanet_333)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A8PD (TRNDi030-A)
Sex of cell Male
Age at sampling 0-2Y
Category Finite cell line
Publications

PubMed=34088014; DOI=10.1016/j.scr.2021.102387; PMCID=PMC8314383
Brianna M. Brooks, Charles D. Yeh, Jeanette K. Beers, Cheng-Yu Liu, Yu-Shan Cheng, Kirill Gorshkov, Ji-Zhong Zou, Wei Zheng, Catherine Z. Chen;
Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.
Stem Cell Res. 53:102387-102387(2021)

Cross-references
Cell line collections (Providers) Coriell; GM20015
Cell line databases/resources CLO; CLO_0028366
Encyclopedic resources Wikidata; Q54850778
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12