ID   AI07e-Timothy
AC   CVCL_UB72
DR   WiCell; ai07e-timothy
DR   Wikidata; Q93323856
RX   PubMed=25765640;
CC   Sequence variation: Mutation; 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: 05-10-23; Version: 8
//
RX   PubMed=25765640; DOI=10.1093/nar/gkv164;
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).
//