Cellosaurus cell line XP4KR (CVCL

Cellosaurus XP4KR (CVCL_ZQ22)

Cross-references
Cell line name	XP4KR
Accession	CVCL_ZQ22
Resource Identification Initiative	To cite this cell line use: XP4KR (RRID:CVCL_ZQ22)
Comments	Population: Japanese. Donor information: Established from monozygotic twin of XP3KR (Cellosaurus=CVCL_L777). 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; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=7905727). Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Heterozygous (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	Female
Age at sampling	8Y
Category	Finite cell line
Publications	PubMed=8105686; PMCID=PMC1682297 Chikako Nishigori, Mohamed Zghal, Takashi Yagi, Sadao Imamura, Mohamed Ridha Komoun, Hiraku Takebe; High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am. J. Hum. Genet. 53:1001-1006(1993) PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009 Chikako Nishigori, Shinichi Moriwaki, Hiraku Takebe, Toshihiro Tanaka, Sadao Imamura; Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch. Dermatol. 130:191-197(1994)
Cell line collections (Providers)	JCRB; KURB1032
Encyclopedic resources	Wikidata; Q98135873
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	9