ID   XPH9PV
AC   CVCL_RU68
SY   Xeroderma Pigmentosum Heterozygote 9 PaVia
DR   CLO; CLO_0009690
DR   CLDB; cl4783
DR   Wikidata; Q54995017
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Gln (c.2048G>A); ClinVar=VCV000264679; Zygosity=Heterozygous (from familial inference of XP15PV; XP16PV).
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)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
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