ID   PSMi002-A
AC   CVCL_VE81
SY   HDF30-JLNS-iPS
DR   hPSCreg; PSMi002-A
DR   Wikidata; Q54948581
RX   PubMed=29677589;
CC   From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg190Trp (c.568C>T) (p.Arg63Trp, c.187C>T); ClinVar=VCV000053070; Zygosity=Heterozygous (PubMed=29677589).
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=29677589).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29677589
ST   F13A01: 6,14
ST   F13B: 8
ST   FESFPS: 10
ST   LPL: 10,11
ST   Penta C: 11,13
ST   Penta D: 10,13
ST   Penta E: 8,15
DI   NCIt; C84793; Jervell and Lange Nielsen syndrome
DI   ORDO; Orphanet_90647; Jervell and Lange-Nielsen syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 15
//
RX   PubMed=29677589; DOI=10.1016/j.scr.2018.04.002;
RA   Mura M., Lee Y.-K., Ginevrino M., Zappatore R., Pisano F., Boni M.,
RA   Dagradi F., Crotti L., Valente E.M., Schwartz P.J., Tse H.-F.,
RA   Gnecchi M.;
RT   "Generation of the human induced pluripotent stem cell (hiPSC) line
RT   PSMi002-A from a patient affected by the Jervell and Lange-Nielsen
RT   syndrome and carrier of two compound heterozygous mutations on the
RT   KCNQ1 gene.";
RL   Stem Cell Res. 29:157-161(2018).
//