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Cellosaurus ATiPS-264 (CVCL_Y527)

[Text version]
Cell line name ATiPS-264
Synonyms AT-iPS-264; AT1OS-iPS_264
Accession CVCL_Y527
Resource Identification Initiative To cite this cell line use: ATiPS-264 (RRID:CVCL_Y527)
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:795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Homozygous (from parent cell line).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_2860 (AT1OS)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=24970375; DOI=10.1038/srep05421; PMCID=PMC4073166
Fukawatase Y., Toyoda M., Okamura K., Nakamura K.-i., Nakabayashi K., Takada S., Yamazaki-Inoue M., Masuda A., Nasu M., Hata K., Hanaoka K., Higuchi A., Takubo K., Umezawa A.
Ataxia telangiectasia derived iPS cells show preserved X-ray sensitivity and decreased chromosomal instability.
Sci. Rep. 4:5421-5421(2014)

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
Cell line databases/resources SKIP; SKIP000395
Encyclopedic resources Wikidata; Q54751242
Entry history
Entry creation07-Nov-2014
Last entry update19-Dec-2024
Version number10