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Cellosaurus IBKMOLi002-A (CVCL_C0HB)

[Text version]

Cell line name IBKMOLi002-A
Synonyms CACNA1D L271H iPSC
Accession CVCL_C0HB
Resource Identification Initiative To cite this cell line use: IBKMOLi002-A (RRID:CVCL_C0HB)
Comments From: Institute for Molecular Biology, University of Innsbruck; Innsbruck; Austria.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 1391; CACNA1D; Simple; p.Leu271His (c.812T>A); Zygosity=Heterozygous; Note=De novo mutation (PubMed=35453044).
Disease Primary aldosteronism, seizures, and neurologic abnormalities (NCIt: C188151)
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORDO: Orphanet_369929)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=35453044; DOI=10.1016/j.scr.2022.102784
Tisch M., De Mingo Alemany M.C., Suarez-Cubero M., Fauth C., Defrancesco M., Zschocke J., Gunther K., Edenhofer F.
Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.
Stem Cell Res. 61:102784-102784(2022)

Cross-references
Cell line databases/resources hPSCreg; IBKMOLi002-A
Biological sample resources BioSamples; SAMEA9468091
Encyclopedic resources Wikidata; Q112929819
Entry history
Entry creation23-Jun-2022
Last entry update22-Sep-2022
Version number2