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Cellosaurus AT5KY (CVCL_1G64)

[Text version]
Cell line name AT5KY
Synonyms Ataxia Telangiectasia 5 KYoto
Accession CVCL_1G64
Resource Identification Initiative To cite this cell line use: AT5KY (RRID:CVCL_1G64)
Comments Population: Japanese.
Caution: Incorrectly indicated as originating from a male patient in JCRB=KURB1791.
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=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_1G65 (AT5KY TERT)
Originate from same individual CVCL_2857 ! AT(L)5KY
Sex of cell Female
Age at sampling 10Y
Category Finite cell line
Publications

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; KURB1791
Encyclopedic resources Wikidata; Q54750951
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12