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Cellosaurus AI07e-Timothy (CVCL_UB72)

[Text version]

Cell line name AI07e-Timothy
Accession CVCL_UB72
Resource Identification Initiative To cite this cell line use: AI07e-Timothy (RRID:CVCL_UB72)
Sequence variations Homozygous for CACNA1C p.Gly406Arg (c.1216G>A) (ClinVar=VCV000017632); by TALEN (WiCell).
Disease Long QT syndrome 8 (NCIt: C142894)
Timothy syndrome (ORDO: Orphanet_65283)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9771 (WA01)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=25765640; DOI=10.1093/nar/gkv164
Martinez R.A., Stein J.L., Krostag A.-R.F., Nelson A.M., Marken J.S., Menon V., May R.C., Yao Z., Kaykas A., Geschwind D.H., Grimley J.S.
Genome engineering of isogenic human ES cells to model autism disorders.
Nucleic Acids Res. 43:E65-E65(2015)

Cross-references
Cell line collections WiCell; ai07e-timothy
Other Wikidata; Q93323856
Entry history
Entry creation13-Nov-2018
Last entry update02-Jul-2020
Version number3