Cellosaurus cell line XP2HM (CVCL

Cross-references
Cell line name	XP2HM
Synonyms	Xeroderma Pigmentosum 2 HamaMatsu
Accession	CVCL_ZQ23
Resource Identification Initiative	To cite this cell line use: XP2HM (RRID:CVCL_ZQ23)
Comments	Population: Japanese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12814; XPA; Simple; p.Tyr116Ter (c.348T>A); ClinVar=VCV000000997; Zygosity=Heterozygous (PubMed=7905727). Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=7905727).
Disease	Xeroderma pigmentosum, complementation group A (NCIt: C3965) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Finite cell line
Publications	PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009 Nishigori C., Moriwaki S., Takebe H., Tanaka T., Imamura S. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch. Dermatol. 130:191-197(1994)
Encyclopedic resources	Wikidata; Q98135643
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8