ID   IBMS-iPSC-045-02
AC   CVCL_XD52
DR   BCRC; SC81110
DR   SKIP; SKIP005714
DR   Wikidata; Q94313060
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:3052; DSP; Simple; p.Arg2639Gln (c.7916G>A); ClinVar=VCV000163287; Zygosity=Unspecified (BCRC=SC81110).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C71060; Short QT syndrome
DI   ORDO; Orphanet_51083; Familial short QT syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
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