ID   XPH133BE
AC   CVCL_1F66
SY   Xeroderma Pigmentosum Heterozygote 133 BEthesda; GM16691
DR   CLO; CLO_0018456
DR   Coriell; GM16691
DR   Wikidata; Q54848705
CC   Population: Honduran.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM16691).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F65 ! XPH133BE LCL
SX   Female
AG   32Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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