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Cellosaurus XP3OS iPS (CVCL_QW49)

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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: Genomics; Whole exome sequencing.
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
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)

Cross-references
Encyclopedic resources Wikidata; Q54994937
Gene expression databases GEO; GSM1338612
Entry history
Entry creation15-Nov-2017
Last entry update10-Apr-2025
Version number13