ID   XP4PA
AC   CVCL_ZP32
DR   Wikidata; Q98135894
RX   PubMed=3029584;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (from child cell line XP4PA(SV)).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Fetus
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=3029584; DOI=10.1016/0167-8817(87)90061-7;
RA   Daya-Grosjean L., James M.R., Drougard C., Sarasin A.;
RT   "An immortalized xeroderma pigmentosum, group C, cell line which
RT   replicates SV40 shuttle vectors.";
RL   Mutat. Res. 183:185-196(1987).
//