ID   MRIi005-A
AC   CVCL_B938
SY   LQT1
DR   BioSamples; SAMEA8073003
DR   hPSCreg; MRIi005-A
DR   ISCR; 1767
DR   Wikidata; Q54903000
RX   PubMed=20660394;
CC   From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg190Gln (c.569G>A) (p.Arg63Gln, c.188G>A); ClinVar=VCV000003117; Zygosity=Heterozygous (PubMed=20660394).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 17
//
RX   PubMed=20660394; DOI=10.1056/NEJMoa0908679;
RA   Moretti A., Bellin M., Welling A., Jung C.B., Lam J.T.,
RA   Bott-Flugel L., Dorn T., Goedel A., Hohnke C., Hofmann F.,
RA   Seyfarth M., Sinnecker D., Schomig A., Laugwitz K.-L.;
RT   "Patient-specific induced pluripotent stem-cell models for long-QT
RT   syndrome.";
RL   N. Engl. J. Med. 363:1397-1409(2010).
//