ID   GM25267
AC   CVCL_1N93
SY   GM25267*D; LQT3 iPS
DR   Coriell; GM25267
DR   SKIP; SKIP000737
DR   Wikidata; Q54853861
RX   PubMed=24268663;
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Asn406Lys (c.1218C>A); ClinVar=VCV000067648; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM25267).
CC   Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C137959; Long QT syndrome 3
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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RX   PubMed=24268663; DOI=10.1016/j.biomaterials.2013.10.052; PMCID=PMC3900500;
RA   Ma Z., Koo S., Finnegan M.A., Loskill P., Huebsch N., Marks N.C.,
RA   Conklin B.R., Grigoropoulos C.P., Healy K.E.;
RT   "Three-dimensional filamentous human diseased cardiac tissue model.";
RL   Biomaterials 35:1367-1377(2014).
//