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Cellosaurus ATiPS-024 (CVCL_Y524)

[Text version]
Cell line name ATiPS-024
Synonyms AT-iPS-024; AT1OS-iPS_024
Accession CVCL_Y524
Resource Identification Initiative To cite this cell line use: ATiPS-024 (RRID:CVCL_Y524)
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: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
Yoshihiro Fukawatase, Masashi Toyoda, Kohji Okamura, Ken-ichi Nakamura, Kazuhiko Nakabayashi, Shuji Takada, Mayu Yamazaki-Inoue, Akira Masuda, Michiyo Nasu, Kenichiro Hata, Kazunori Hanaoka ...Show all 14 authors... , Akon Higuchi, Kaiyo Takubo, Akihiro Umezawa; Show fewer authors
Ataxia telangiectasia derived iPS cells show preserved X-ray sensitivity and decreased chromosomal instability.
Sci. Rep. 4:5421.1-5421.11(2014)

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
Cell line databases/resources SKIP; SKIP000392
Encyclopedic resources Wikidata; Q54751235
Entry history
Entry creation07-Nov-2014
Last entry update10-Apr-2025
Version number11