Cellosaurus cell line XP2NI (CVCL

Cross-references
Cell line name	XP2NI
Accession	CVCL_ZQ47
Resource Identification Initiative	To cite this cell line use: XP2NI (RRID:CVCL_ZQ47)
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; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=7905727; PubMed=8596539). Mutation; HGNC; HGNC:12814; XPA; Simple; p.Glu225Gln (c.673G>C); Zygosity=Heterozygous (PubMed=7905727; PubMed=8596539).
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	12Y
Category	Finite cell line
Publications	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) PubMed=8596539; DOI=10.1016/0921-8777(95)00052-6 Mayumi Sato, Chikako Nishigori, Takashi Yagi, Hiraku Takebe; Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation. Mutat. Res. 362:199-208(1996)
Encyclopedic resources	Wikidata; Q98135657
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8