ID   XP69TMA
AC   CVCL_1F36
SY   Xeroderma Pigmentosum Turkey MAlatya 69; GM14871; GM14871A
DR   CLO; CLO_0031926
DR   Coriell; GM14871
DR   Wikidata; Q54847486
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Tyr430Ter (c.1290_1295delTAAAGA) (p.Tyr430_Glu432delinsTer) (1395_1400delTAAAGA); ClinVar=VCV000940041; Zygosity=Homozygous (Coriell=GM14871).
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_1F35 ! XP69TMA LCL
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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