ID   XPCS2LV SV40
AC   CVCL_F621
SY   GM14930
DR   CLO; CLO_0030505
DR   BioSample; SAMN00803959
DR   Coriell; GM14930
DR   Wikidata; Q54847524
CC   Population: Caucasian; Flemish.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Arg263Ter (c.787C>T) (984C>T); ClinVar=VCV000016570; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ser659Valfs*1 (c.1975delA) (2172delA); ClinVar=VCV001696064; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F619 ! XPCS2LV
SX   Male
AG   1Y8M
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 18
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