ID   AT6KY
AC   CVCL_1G66
SY   Ataxia Telangiectasia 6 KYoto
DR   JCRB; KURB1796
DR   Wikidata; Q54750962
RX   PubMed=9600235;
RX   PubMed=14570874;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.332del165 (g.484C>T) (Ex7del); 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_2858 ! AT(L)6KY
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
CH   CVCL_1G67 ! AT6KY TERT
//
RX   PubMed=14570874; DOI=10.1074/jbc.M309457200;
RA   Naka, Kazuhito
RA   Tachibana, Akira
RA   Ikeda, Kyoji
RA   Motoyama, Noboru
RT   "Stress-induced premature senescence in hTERT-expressing ataxia
RT   telangiectasia fibroblasts.";
RL   J. Biol. Chem. 279:2030-2037(2004).
//
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).
//