ID   MRIi016-A-1
AC   CVCL_D0EA
SY   B7 ctrl; SHOX2 c.*28T>C_isoWT; UKHGi017-A-1
DR   BioSamples; SAMEA112450469
DR   hPSCreg; MRIi016-A-1
DR   Wikidata; Q123033122
RX   PubMed=32976766;
RX   PubMed=37028180;
CC   From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10854; SHOX2; Simple_corrected; c.*28T>C; dbSNP=rs138912749; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32976766).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C50466; Atrial fibrillation
DI   ORDO; Orphanet_334; Familial atrial fibrillation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A0TA ! MRIi016-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
CH   CVCL_D0EB ! MRIi016-A-2
//
RX   PubMed=32976766; DOI=10.1016/j.stemcr.2020.08.015; PMCID=PMC7562944;
RA   Sumer, Simon Alexander
RA   Hoffmann, Sandra
RA   Laue, Svenja
RA   Campbell, Birgit
RA   Raedecke, Kristin
RA   Frajs, Viktoria
RA   Clauss, Sebastian
RA   Kaab, Stefan
RA   Janssen, Johannes W.G.
RA   Jauch, Anna
RA   Laugwitz, Karl-Ludwig
RA   Dorn, Tatjana
RA   Moretti, Alessandra
RA   Rappold, Gudrun Anna
RT   "Precise correction of heterozygous SHOX2 mutations in hiPSCs derived
RT   from patients with atrial fibrillation via genome editing and sib
RT   selection.";
RL   Stem Cell Reports 15:999-1013(2020).
//
RX   PubMed=37028180; DOI=10.1016/j.scr.2023.103089;
RA   Radecke, Kristin
RA   Gore, Ambuj
RA   Burau, Karin
RA   Laugsch, Magdalena
RA   Kohler, Katrin
RA   Rappold, Gudrun Anna
RA   Hoffmann, Sandra
RT   "Generation of two homozygous SHOX2 knock-out human induced
RT   pluripotent stem cell lines using CRISPR/Cas9.";
RL   Stem Cell Res. 69:103089-103089(2023).
//