ID   XP132BE
AC   CVCL_M319
SY   Xeroderma Pigmentosum 132 BEthesda; GM16693
DR   CLO; CLO_0018458
DR   Coriell; GM16693
DR   Wikidata; Q54848709
CC   Population: Honduran.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM16693).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M318 ! XP132BE LCL
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 17
//