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Cellosaurus GM10595 (CVCL_YP32)

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Cell line name GM10595
Synonyms GM 10595
Accession CVCL_YP32
Resource Identification Initiative To cite this cell line use: GM10595 (RRID:CVCL_YP32)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L754 (XP3NE)
Sex of cell Male
Age at sampling 28Y
Category Transformed cell line
Publications

PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b
Robert T. Johnson, Shoshana Squires;
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutat. Res. 273:97-118(1992)

Cross-references
Cell line collections (Providers) Coriell; GM10595 - Discontinued
Encyclopedic resources Wikidata; Q93809863
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number7