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Cellosaurus AT1OS (CVCL_2860)

[Text version]
Cell line name AT1OS
Synonyms Ataxia Telangiectasia 1 OSaka
Accession CVCL_2860
Resource Identification Initiative To cite this cell line use: AT1OS (RRID:CVCL_2860)
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 (PubMed=9600235).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZY35 (AT1OS SV)CVCL_RW89 (AT1OS TERT)CVCL_D5IA (AT1OS(SVT)-1)
CVCL_Y524 (ATiPS-024)CVCL_Y525 (ATiPS-262)CVCL_Y526 (ATiPS-263)
CVCL_Y527 (ATiPS-264)
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
STR profile Source(s): JCRB=JCRB0308

Markers:
AmelogeninX,Y
CSF1PO10,12
D5S81810
D7S82011,12
D13S3179
D16S5399,12
TH019
TPOX10,11
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=6876478; DOI=10.1007/BF01897042
Ikenaga M., Midorikawa M., Abe J., Mimaki T.
The sensitivities to radiations and radiomimetic chemicals of cells from patients with ataxia telangiectasia.
Jinrui Idengaku Zasshi 28:1-10(1983)

PubMed=9600235; DOI=10.1007/s004390050712
Ejima Y., Sasaki M.S.
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
Hum. Genet. 102:403-408(1998)

PubMed=14570874; DOI=10.1074/jbc.M309457200
Naka K., Tachibana A., Ikeda K., Motoyama N.
Stress-induced premature senescence in hTERT-expressing ataxia telangiectasia fibroblasts.
J. Biol. Chem. 279:2030-2037(2004)

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 collections (Providers) JCRB; JCRB0308
Biological sample resources BioSample; SAMN03471616
Encyclopedic resources Wikidata; Q54750849
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number17