ID   IBKMOLi002-A
AC   CVCL_C0HB
SY   CACNA1D L271H iPSC
DR   BioSamples; SAMEA9468091
DR   hPSCreg; IBKMOLi002-A
DR   Wikidata; Q112929819
RX   PubMed=35453044;
CC   From: Institute for Molecular Biology, University of Innsbruck; Innsbruck; Austria.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1391; CACNA1D; Simple; p.Leu271His (c.812T>A); Zygosity=Heterozygous; Note=De novo mutation (PubMed=35453044).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188151; Primary aldosteronism, seizures, and neurologic abnormalities
DI   ORDO; Orphanet_369929; Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35453044; DOI=10.1016/j.scr.2022.102784;
RA   Tisch M., De Mingo Alemany M.C., Suarez-Cubero M., Fauth C.,
RA   Defrancesco M., Zschocke J., Gunther K., Edenhofer F.;
RT   "Generation of the human induced pluripotent stem cell line
RT   (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H
RT   mutation of the voltage-gated calcium channel subunit Cav1.3-encoding
RT   CACNA1D gene.";
RL   Stem Cell Res. 61:102784-102784(2022).
//