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Cellosaurus AT1KYF (CVCL_RW84)

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Cell line name AT1KYF
Synonyms FAT1/2KY; Ataxia Telangiectasia 1/2 KYoto Father
Accession CVCL_RW84
Resource Identification Initiative To cite this cell line use: AT1KYF (RRID:CVCL_RW84)
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.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (PubMed=9600235).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
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; KURB1781
Encyclopedic resources Wikidata; Q54750846
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10