Cellosaurus cell line XPV8HM (CVCL

Cross-references
Cell line name	XPV8HM
Synonyms	Xeroderma Pigmentosum Variant HamaMatsu 8
Accession	CVCL_A1ZH
Resource Identification Initiative	To cite this cell line use: XPV8HM (RRID:CVCL_A1ZH)
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:9181; POLH; Simple; p.Ser242Ter (c.725C>G); ClinVar=VCV000264680; Zygosity=Heterozygous (PubMed=17344931). Mutation; HGNC; HGNC:9181; POLH; Simple; p.Lys589Thr (c.1766A>C); ClinVar=VCV000005895; Zygosity=Heterozygous (PubMed=17344931).
Disease	Xeroderma pigmentosum variant type (NCIt: C141367) Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	39Y
Category	Finite cell line
Publications	PubMed=17344931; DOI=10.1038/sj.jid.5700759 Miki Tanioka, Taro Masaki, Ryusuke Ono, Tohru Nagano, Eriko Otoshi-Honda, Yasuhiro Matsumura, Masahiro Takigawa, Hiroki Inui, Yoshiki Miyachi, Shinichi Moriwaki, Chikako Nishigori; Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. J. Invest. Dermatol. 127:1745-1751(2007)
Encyclopedic resources	Wikidata; Q105511821
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6