ID   GM22690
AC   CVCL_HL18
SY   F-2111
DR   Coriell; GM22690
DR   Wikidata; Q54852734
RX   PubMed=17632790;
CC   Population: Caucasian; Circassian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Thr1885fs (c.5653delA); Zygosity=Homozygous (PubMed=17632790).
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_HL20 ! GM22692
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=17632790; DOI=10.1002/ajmg.a.31853;
RA   Alterman N., Fattal-Valevski A., Moyal L., Crawford T.O.,
RA   Lederman H.M., Ziv Y., Shiloh Y.;
RT   "Ataxia-telangiectasia: mild neurological presentation despite null
RT   ATM mutation and severe cellular phenotype.";
RL   Am. J. Med. Genet. A 143:1827-1834(2007).
//