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Cellosaurus XP3OS iPS (CVCL_QW49)

[Text version]
Cell line name XP3OS iPS
Synonyms XP3OS iPS1; XPAiPS-O1
Accession CVCL_QW49
Resource Identification Initiative To cite this cell line use: XP3OS iPS (RRID:CVCL_QW49)
Comments Population: Japanese.
Omics: Deep exome analysis.
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_3245 (XP3OS)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=27197874

Markers:
AmelogeninX
CSF1PO10,11
D3S135815,16
D5S81810,11
D7S82011,12
D8S117913,15
D13S3179,11
D16S5399,12
D18S5113
D21S1129,30
FGA22,23
Penta D9
Penta E14,17
TH017
TPOX8,11
vWA14,16

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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; Q54994937
Gene expression databases GEO; GSM1338612
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number12