ID   GM27173
AC   CVCL_ZG16
SY   GM27173*B
DR   Coriell; GM27173
DR   Wikidata; Q98126383
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple_corrected; p.Ala422Thr (c.1264G>A); ClinVar=VCV000067174; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM27173).
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; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1N94 ! GM25305
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//