ID   AT7KYM
AC   CVCL_JK48
SY   MAT7KY
DR   JCRB; KURB1807
DR   Wikidata; Q54750972
RX   PubMed=9600235;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (PubMed=9600235).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_JK47 ! AT(L)7KYM
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 29-06-23; Version: 11
//
RX   PubMed=9600235; DOI=10.1007/s004390050712;
RA   Ejima Y., Sasaki M.S.;
RT   "Mutations of the ATM gene detected in Japanese ataxia-telangiectasia
RT   patients: possible preponderance of the two founder mutations
RT   4612del165 and 7883del5.";
RL   Hum. Genet. 102:403-408(1998).
//