ID   XP3HM [XP-G]
AC   CVCL_ZS95
SY   Xeroderma Pigmentosum 3 HamaMatsu
DR   Wikidata; Q98135765
RX   PubMed=22417308;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Leu65Pro (c.194T>C); Zygosity=Homozygous (PubMed=22417308).
CC   Caution: Two different patients and fibroblast cell lines seem to have been given the same designation: XPH3M, one is a XP-A (Cellosaurus=CVCL_ZQ56) the other a XP-G (Cellosaurus=CVCL_ZS95).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3969; Xeroderma pigmentosum, complementation group G
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=22417308; DOI=10.1111/j.1600-0625.2012.01446.x; PMCID=PMC3305914;
RA   Moriwaki S., Takigawa M., Igarashi N., Nagai Y., Amano H.,
RA   Ishikawa O., Khan S.G., Kraemer K.H.;
RT   "Xeroderma pigmentosum complementation group G patient with a novel
RT   homozygous missense mutation and no neurological abnormalities.";
RL   Exp. Dermatol. 21:304-307(2012).
//