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 Takahashi Y., Endo Y., Sugiyama Y., Inoue S., Iijima M., Tomita Y., Kuru S., Takigawa M., Moriwaki S. 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 Takahashi Y., Endo Y., Kusaka-Kikushima A., Nakamura S., Nakazawa Y., Ogi T., Uryu M., Tsuji G., Furue M., Moriwaki S. 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