ID   MRIi016-A
SY   B7; Shox2.1
DR   BioSamples; SAMEA9438084
DR   hPSCreg; MRIi016-A
DR   Wikidata; Q108820965
RX   PubMed=32976766;
CC   From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10854; SHOX2; Simple; c.*28T>C; dbSNP=rs138912749; Zygosity=Heterozygous (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)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 5
RX   PubMed=32976766; DOI=10.1016/j.stemcr.2020.08.015;
RA   Sumer S.A., Hoffmann S., Laue S., Campbell B., Raedecke K., Frajs V.,
RA   Clauss S., Kaab S., Janssen J.W.G., Jauch A., Laugwitz K.-L., Dorn T.,
RA   Moretti A., Rappold G.A.;
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).