ID   ATiPS-264
AC   CVCL_Y527
SY   AT-iPS-264; AT1OS-iPS_264
DR   SKIP; SKIP000395
DR   Wikidata; Q54751242
RX   PubMed=24970375;
RX   PubMed=27197874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Homozygous (from parent cell line).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2860 ! AT1OS
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 10
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RX   PubMed=24970375; DOI=10.1038/srep05421; PMCID=PMC4073166;
RA   Fukawatase Y., Toyoda M., Okamura K., Nakamura K.-i., Nakabayashi K.,
RA   Takada S., Yamazaki-Inoue M., Masuda A., Nasu M., Hata K., Hanaoka K.,
RA   Higuchi A., Takubo K., Umezawa A.;
RT   "Ataxia telangiectasia derived iPS cells show preserved X-ray
RT   sensitivity and decreased chromosomal instability.";
RL   Sci. Rep. 4:5421-5421(2014).
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RX   PubMed=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825;
RA   Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M.,
RA   Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S.,
RA   Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S.,
RA   Hata K., Toyoda M., Umezawa A.;
RT   "Distinctive features of single nucleotide alterations in induced
RT   pluripotent stem cells with different types of DNA repair deficiency
RT   disorders.";
RL   Sci. Rep. 6:26342-26342(2016).
//