09097CHomo sapiens (Human)Induced pluripotent stem cell

Basic Information

Database IDCVCL_VG25
SpeciesHomo sapiens (Human)
Tissue SourceSkin, dermis[UBERON:UBERON_0002067]

Disease Information

DiseaseCostello syndrome

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleHRASp.Gly12Ser (c.34G>A)Unspecified-PubMed=27693639

Publications

Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome.

Yeh E., Roose J.P., Klein O.D., Rauen K.A., Weiss L.A., Ullian E.M.

J. Neurosci. 36:142-152(2016).