ID   GM25305
AC   CVCL_1N94
SY   GM25305*C
DR   Coriell; GM25305
DR   SKIP; SKIP000738
DR   Wikidata; Q54853868
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Ala422Thr (c.1264G>A); ClinVar=VCV000067174; Zygosity=Heterozygous (Coriell=GM25305).
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_ZG16 ! GM27173
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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