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Cellosaurus AT7KYM (CVCL_JK48)

[Text version]
Cell line name AT7KYM
Synonyms MAT7KY
Accession CVCL_JK48
Resource Identification Initiative To cite this cell line use: AT7KYM (RRID:CVCL_JK48)
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).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_JK47 ! AT(L)7KYM
Sex of cell Female
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; KURB1807
Encyclopedic resources Wikidata; Q54750972
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number12