Cellosaurus cell line XPEMB-1 iPS (CVCL

Cellosaurus XPEMB-1 iPS (CVCL_RX70)

Cross-references
Cell line name	XPEMB-1 iPS
Synonyms	XPEMB-1 iPS3; XPAiPS-E3
Accession	CVCL_RX70
Resource Identification Initiative	To cite this cell line use: XPEMB-1 iPS (RRID:CVCL_RX70)
Comments	Omics: Genomics; Whole exome sequencing. Misspelling: EPEMB-1 iPS3; GEO=GSM1338616. 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=27197874).
Disease	Xeroderma pigmentosum, complementation group A (NCIt: C3965) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_3252 (XPEMB-1)
Sex of cell	Sex unspecified
Age at sampling	Fetus
Category	Induced pluripotent stem cell
Publications	PubMed=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825 Kohji Okamura, Hironari Sakaguchi, Rie Sakamoto-Abutani, Mahito Nakanishi, Ken Nishimura, Mayu Yamazaki-Inoue, Manami Ohtaka, Vaiyapuri Subbarayan Periasamy, Ali Abdullah Alshatwi, Akon Higuchi, Kazunori Hanaoka ...Show all 16 authors... , Kazuhiko Nakabayashi, Shuji Takada, Kenichiro Hata, Masashi Toyoda, Akihiro Umezawa; Show fewer authors Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders. Sci. Rep. 6:26342.1-26342.10(2016)
Encyclopedic resources	Wikidata; Q54994982
Gene expression databases	GEO; GSM1338616
Entry history
Entry creation	05-Mar-2018
Last entry update	10-Apr-2025
Version number	12