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Cellosaurus AT3KY (CVCL_1G69)

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Cell line name AT3KY
Synonyms Ataxia Telangiectasia 3 KYoto
Accession CVCL_1G69
Resource Identification Initiative To cite this cell line use: AT3KY (RRID:CVCL_1G69)
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.Asp1637_Leu1668del32 (c.4910del96) (Ex35del); Zygosity=Homozygous (PubMed=9600235).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10Y
Category Finite cell line
Publications

PubMed=9600235; DOI=10.1007/s004390050712
Yosuke Ejima, Masao S. Sasaki;
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; KURB1786
Encyclopedic resources Wikidata; Q54750920
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number11