ID   XPH4PV
AC   CVCL_RU63
SY   Xeroderma Pigmentosum Heterozygote 4 PaVia
DR   CLO; CLO_0009685
DR   CLDB; cl4778
DR   Wikidata; Q54995012
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Pro43Glnfs*36 (c.128delC); ClinVar=VCV000551235; Zygosity=Heterozygous (from familial inference of XP12PV).
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   29Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//