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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: Deep exome analysis.
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
Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M., Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S., Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S., Hata K., Toyoda M., Umezawa A.
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 update19-Dec-2024
Version number11