Cellosaurus logo
expasy logo

Cellosaurus GM23937 (CVCL_T822)

[Text][XML][JSON]
Cell line name GM23937
Synonyms GM23937*B
Accession CVCL_T822
Resource Identification Initiative To cite this cell line use: GM23937 (RRID:CVCL_T822)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM23937).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T824 (GM11853)
Children:
CVCL_D2ZM (GM28966)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM23937
Cell line databases/resources SKIP; SKIP000263
SKIP; SKIP004374
Encyclopedic resources Wikidata; Q54853454
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number19