ID   SCVIi097-A
AC   CVCL_D0LG
SY   SCVI-675fs2
DR   BioSamples; SAMEA114210488
DR   hPSCreg; SCVIi097-A
DR   Wikidata; Q123033440
RX   PubMed=37944352;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: East Asian.
CC   Sequence variation: Mutation; HGNC; 17574; ALPK3; Simple; p.Gln675Serfs (c.2023delC) (p.Gln473Serfs, c.1417del); ClinVar=VCV000427757; Zygosity=Heterozygous (PubMed=37944352).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179054; Familial hypertrophic cardiomyopathy type 27
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18-30Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37944352; DOI=10.1016/j.scr.2023.103233;
RA   Cheawsamoot C., Ramchandani R., Ameen M., Arthur Ataam J.,
RA   Khongphatthanayothin A., Shotelersuk V., Karakikes I.;
RT   "Generation of human induced pluripotent stem cell lines derived from
RT   four patients with a pathogenic ALPK3 variant associated with
RT   adult-onset hypertrophic cardiomyopathy (HCM).";
RL   Stem Cell Res. 73:103233-103233(2023).
//