ID   UMGi120-A.7
AC   CVCL_A4JN
SY   GOEi091-A.7; isSQTSa1.7
DR   hPSCreg; UMGi120-A
DR   SKIP; SKIP003211
DR   Wikidata; Q105511613
RX   PubMed=29574456;
WW   Provider; UMCG; -; https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=163
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Asn588Lys (c.1764C>G); ClinVar=VCV000014436; Zygosity=Heterozygous (PubMed=29574456).
CC   Caution: The University Medical Center Goettingen is not following the guidelines of hPSCreg regarding the naming of their cell lines: they are assigning a single name (here UMGi120-A) for a series of distinct clones.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C71060; Short QT syndrome
DI   ORDO; Orphanet_51083; Familial short QT syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4JP ! UMGi120-A.8
OI   CVCL_A4JQ ! UMGi120-A.15
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 10-04-25; Version: 7
//
RX   PubMed=29574456; DOI=10.1161/JAHA.117.007394; PMCID=PMC5907581;
RA   El-Battrawy, Ibrahim
RA   Lan, Huan
RA   Cyganek, Lukas
RA   Zhao, Zhi-Han
RA   Li, Xin
RA   Buljubasic, Fanis
RA   Lang, Siegfried
RA   Yucel, Gokhan
RA   Sattler, Katherine
RA   Zimmermann, Wolfram-Hubertus
RA   Utikal, Jochen Sven
RA   Wieland, Thomas
RA   Ravens, Ursula
RA   Borggrefe, Martin
RA   Zhou, Xiao-Bo
RA   Akin, Ibrahim
RT   "Modeling short QT syndrome using human-induced pluripotent stem
RT   cell-derived cardiomyocytes.";
RL   J. Am. Heart Assoc. 7:e007394.1-e007394.40(2018).
//