ID   AT3KYM
AC   CVCL_RW83
SY   MAT3/4KY
DR   JCRB; KURB1789
DR   Wikidata; Q54750922
RX   PubMed=9600235;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp1637_Leu1668del32 (c.4910del96) (Ex35del); 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)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
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).
//