Cellosaurus logo
expasy logo

Cellosaurus XP3HM [XP-G] (CVCL_ZS95)

[Text version]
Cell line name XP3HM [XP-G]
Synonyms Xeroderma Pigmentosum 3 HamaMatsu
Accession CVCL_ZS95
Resource Identification Initiative To cite this cell line use: XP3HM [XP-G] (RRID:CVCL_ZS95)
Comments Population: Japanese.
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).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Leu65Pro (c.194T>C); Zygosity=Homozygous (PubMed=22417308).
Disease Xeroderma pigmentosum, complementation group G (NCIt: C3969)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Finite cell line
Publications

PubMed=22417308; DOI=10.1111/j.1600-0625.2012.01446.x; PMCID=PMC3305914
Moriwaki S., Takigawa M., Igarashi N., Nagai Y., Amano H., Ishikawa O., Khan S.G., Kraemer K.H.
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.
Exp. Dermatol. 21:304-307(2012)

Cross-references
Encyclopedic resources Wikidata; Q98135765
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7