ID AI07e-Timothy AC CVCL_UB72 DR WiCell; ai07e-timothy DR Wikidata; Q93323856 RX PubMed=25765640; CC Sequence variation: Mutation; HGNC; HGNC:1390; CACNA1C; Simple_edited; p.Gly406Arg (c.1216G>A); ClinVar=VCV000017632; Zygosity=Homozygous; Note=By TALEN (WiCell=ai07e-timothy). CC Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. CC Cell type: Embryonic stem cell; CL=CL_0002322. DI NCIt; C142894; Long QT syndrome 8 DI ORDO; Orphanet_65283; Timothy syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_9771 ! WA01 SX Male AG Blastocyst stage CA Embryonic stem cell DT Created: 13-11-18; Last updated: 19-12-24; Version: 9 // RX PubMed=25765640; DOI=10.1093/nar/gkv164; PMCID=PMC4446412; RA Martinez R.A., Stein J.L., Krostag A.-R.F., Nelson A.M., Marken J.S., RA Menon V., May R.C., Yao Z.-Z., Kaykas A., Geschwind D.H., Grimley J.S.; RT "Genome engineering of isogenic human ES cells to model autism RT disorders."; RL Nucleic Acids Res. 43:e65.1-e65.9(2015). //