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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)
Comments Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:1390; CACNA1C; Simple_edited; p.Gly406Arg (c.1216G>A); ClinVar=VCV000017632; Zygosity=Homozygous; Note=By TALEN (WiCell=ai07e-timothy).
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; PMCID=PMC4446412
Martinez R.A., Stein J.L., Krostag A.-R.F., Nelson A.M., Marken J.S., Menon V., May R.C., Yao Z.-Z., Kaykas A., Geschwind D.H., Grimley J.S.
Genome engineering of isogenic human ES cells to model autism disorders.
Nucleic Acids Res. 43:e65.1-e65.9(2015)

Cross-references
Cell line collections (Providers) WiCell; ai07e-timothy
Encyclopedic resources Wikidata; Q93323856
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9