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Cellosaurus AT2KY (CVCL_2861)

[Text version]
Cell line name AT2KY
Synonyms Ataxia Telangiectasia 2 KYoto
Accession CVCL_2861
Resource Identification Initiative To cite this cell line use: AT2KY (RRID:CVCL_2861)
Comments Population: Japanese.
Misspelling: JCRB316; Note=Based on the JCRB catalog number.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (PubMed=9600235).
  • Mutation; HGNC; 795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (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_L457 (AT2KY TERT)CVCL_RW85 (AT2KYSV)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO10,12
D5S8189,10
D7S82011
D13S31711,12
D16S53912
TH017,9
TPOX9,12
vWA18

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Publications

PubMed=1978855; DOI=10.1080/09553009014552301
Ejima Y., Oshimura M., Sasaki M.S.
Establishment of a novel immortalized cell line from ataxia telangiectasia fibroblasts and its use for the chromosomal assignment of radiosensitivity gene.
Int. J. Radiat. Biol. 58:989-997(1990)

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

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)

Cross-references
Cell line collections (Providers) JCRB; JCRB0316
JCRB; KURB1777
JCRB; KURB1778
Biological sample resources BioSample; SAMN03471619
Encyclopedic resources Wikidata; Q54750865
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number20