ID   AT4JTO
AC   CVCL_M812
SY   Ataxia Telangiectasia 4 Japan TOkyo
DR   JCRB; JCRB3052
DR   JCRB; KURB1810
DR   Wikidata; Q54750932
RX   PubMed=7057793;
RX   PubMed=9600235;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; c.4612del165 (Ex33del); Zygosity=Heterozygous (PubMed=9600235).
CC   Discontinued: JCRB; KURB1810; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 8,9
ST   D16S539: 9,12
ST   D5S818: 9,10
ST   D7S820: 10,12
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 14
//
RX   PubMed=7057793; DOI=10.1016/0165-7992(82)90026-4;
RA   Ejima Y., Sasaki M.S., Utsumi H., Kaneko A., Tanooka H.;
RT   "Radiosensitivity of fibroblasts from patients with retinoblastoma and
RT   chromosome-13 anomalies.";
RL   Mutat. Res. 103:177-184(1982).
//
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).
//