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Cellosaurus GM28966 (CVCL_D2ZM)

[Text version]
Cell line name GM28966
Synonyms GM28966*B
Accession CVCL_D2ZM
Resource Identification Initiative To cite this cell line use: GM28966 (RRID:CVCL_D2ZM)
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_corrected; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM28966).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T822 (GM23937)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28966
Encyclopedic resources Wikidata; Q127380944
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3