ID   PSMi007-A
AC   CVCL_WG47
SY   SA13.5-iPS
DR   hPSCreg; PSMi007-A
DR   Wikidata; Q98128687
RX   PubMed=30878014;
CC   From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Ala341Val (c.1022C>T) (p.Ala214Val, c.641C>T); ClinVar=VCV000003121; Zygosity=Heterozygous (PubMed=30878014).
CC   Sequence variation: Mutation; HGNC; 16859; NOS1AP; Simple; chr1:g.162060117A>T; dbSNP=rs4657139; Zygosity=Homozygous (PubMed=30878014).
CC   Sequence variation: Mutation; HGNC; 16859; NOS1AP; Simple; chr1:g.162065484T>C (g.694T>C); dbSNP=rs16847548; Zygosity=Homozygous (PubMed=30878014).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 30-01-24; Version: 10
//
RX   PubMed=30878014; DOI=10.1016/j.scr.2019.101416;
RA   Mura M., Pisano F., Stefanello M., Ginevrino M., Boni M., Calabro F.,
RA   Crotti L., Valente E.M., Schwartz P.J., Brink P.A., Gnecchi M.;
RT   "Generation of the human induced pluripotent stem cell (hiPSC) line
RT   PSMi007-A from a long QT syndrome type 1 patient carrier of two common
RT   variants in the NOS1AP gene.";
RL   Stem Cell Res. 36:101416-101416(2019).
//