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; 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; HGNC:16859; NOS1AP; Simple; chr1:g.162060117A>T; dbSNP=rs4657139; Zygosity=Homozygous (PubMed=30878014).
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 11
//
RX   PubMed=30878014; DOI=10.1016/j.scr.2019.101416;
RA   Mura, Manuela
RA   Pisano, Federica
RA   Stefanello, Manuela
RA   Ginevrino, Monia
RA   Boni, Marina
RA   Calabro, Federica
RA   Crotti, Lia
RA   Valente, Enza Maria
RA   Schwartz, Peter J.
RA   Brink, Paul A.
RA   Gnecchi, Massimiliano
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).
//