ID   GM17420
AC   CVCL_1F74
DR   CLO; CLO_0012254
DR   Coriell; GM17420
DR   Wikidata; Q54848857
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS2+1G>A; Zygosity=Homozygous; Note=Splice donor mutation (from familial inference of XP86BE).
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_1F73 ! GM17419
SX   Male
AG   35Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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