ID   XP207SF
AC   CVCL_ZU54
SY   Xeroderma Pigmentosum 207 San Fransisco
DR   Wikidata; Q98135504
RX   PubMed=16990803;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Asp121Alafs*26 (c.362delA) (A362del-1); ClinVar=VCV002679647; Zygosity=Heterozygous (from autologous cell line XP207SF LCL).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Glu149Lysfs*18 (c.441_442GA[2]) (c.444_445delAG) (c.445_446delGA) (GA444,445 del-2); ClinVar=VCV000557065; Zygosity=Heterozygous (from autologous cell line XP207SF LCL).
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_ZU55 ! XP207SF LCL
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 10
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RX   PubMed=16990803; DOI=10.1038/sj.jid.5700555; PMCID=PMC3031115;
RA   Cleaver J.E., Feeney L., Tang J.Y., Tuttle P.;
RT   "Xeroderma pigmentosum group C in an isolated region of Guatemala.";
RL   J. Invest. Dermatol. 127:493-496(2007).
//