Cellosaurus cell line XP12HM (CVCL

Cellosaurus XP12HM (CVCL_ZQ70)

Cross-references
Cell line name	XP12HM
Synonyms	Xeroderma Pigmentosum 12 HamaMatsu
Accession	CVCL_ZQ70
Resource Identification Initiative	To cite this cell line use: XP12HM (RRID:CVCL_ZQ70)
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=Homozygous; Note=Splice acceptor mutation (PubMed=20574439; PubMed=27603812).
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	12Y
Category	Finite cell line
Publications	PubMed=20574439; DOI=10.1038/jid.2010.137 Yoshito Takahashi, Yoko Endo, Yoshinori Sugiyama, Shintaro Inoue, Masahiro Iijima, Yasushi Tomita, Satoshi Kuru, Masahiro Takigawa, Shinichi Moriwaki; XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. J. Invest. Dermatol. 130:2481-2488(2010) PubMed=27603812; DOI=10.1111/bjd.15051 Yoshito Takahashi, Yoko Endo, Ayumi Kusaka-Kikushima, Sachiko Nakamura, Yuka Nakazawa, Tomoo Ogi, Miki Uryu, Gaku Tsuji, Masutaka Furue, Shinichi Moriwaki; An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities. Br. J. Dermatol. 177:253-257(2017)
Encyclopedic resources	Wikidata; Q98135273
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8