ID   AT7KY
AC   CVCL_1G68
SY   Ataxia Telangiectasia 7 KYoto
DR   JCRB; KURB1804
DR   Wikidata; Q54750970
RX   PubMed=9600235;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.2125del126 (Ex16del); Zygosity=Heterozygous (PubMed=9600235).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2859 ! AT(L)7KY
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
//
RX   PubMed=9600235; DOI=10.1007/s004390050712;
RA   Ejima, Yosuke
RA   Sasaki, Masao 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).
//