ID PFIZi013-B AC CVCL_VE65 SY RCi216 DR BioSamples; SAMEA4447666 DR EBiSC; PFIZi013-B DR ECACC; 66540498 DR hPSCreg; PFIZi013-B DR Wikidata; Q54947268 CC From: Pfizer, Inc.; New York; USA. CC Sequence variation: Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Ala382Thr (c.1144G>A); ClinVar=VCV000021474; Zygosity=Heterozygous (hPSCreg=PFIZi013-B). CC Discontinued: EBiSC; PFIZi013-B; true. CC Discontinued: ECACC; 66540498; true. CC Cell type: Fibroblast; CL=CL_0000057. DI NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia DI ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_IJ00 ! PFIZi013-A SX Female AG Age unspecified CA Induced pluripotent stem cell DT Created: 14-05-18; Last updated: 10-04-25; Version: 11 //