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Cellosaurus XPEMB-1 iPS (CVCL_RX70)

[Text version]
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. 6:26342-26342(2016)

Cross-references
Encyclopedic resources Wikidata; Q54994982
Gene expression databases GEO; GSM1338616
Entry history
Entry creation05-Mar-2018
Last entry update10-Apr-2025
Version number12