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Cellosaurus AT1KY (CVCL_RW78)

[Text version]
Cell line name AT1KY
Synonyms Ataxia Telangiectasia 1 KYoto
Accession CVCL_RW78
Resource Identification Initiative To cite this cell line use: AT1KY (RRID:CVCL_RW78)
Comments Population: Japanese.
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; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (PubMed=9600235).
  • Mutation; HGNC; 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_RW79 (AT1KY TERT)
Sex of cell Female
Age at sampling 7Y
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; KURB1773
Encyclopedic resources Wikidata; Q54750842
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number13