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Cellosaurus AT7KY (CVCL_1G68)

[Text version]
Cell line name AT7KY
Synonyms Ataxia Telangiectasia 7 KYoto
Accession CVCL_1G68
Resource Identification Initiative To cite this cell line use: AT7KY (RRID:CVCL_1G68)
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; c.2125del126 (Ex16del); Zygosity=Heterozygous (PubMed=9600235).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_2859 ! AT(L)7KY
Sex of cell Male
Age at sampling 3Y
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)

Cross-references
Cell line collections (Providers) JCRB; KURB1804
Encyclopedic resources Wikidata; Q54750970
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12