ID   GM22244
AC   CVCL_BU38
DR   Coriell; GM22244
DR   Wikidata; Q54852455
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp1067Thrfs*4 (c.3198delA); ClinVar=VCV002417452; Zygosity=Homozygous (Coriell=GM22244).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 9
//