ID   UKEi070-A-2
AC   CVCL_A0YU
SY   cpHet; Mut 103
DR   BioSamples; SAMEA8944461
DR   hPSCreg; UKEi070-A-2
DR   Wikidata; Q108821442
RX   PubMed=34375846;
CC   From: University Medical Center Hamburg-Eppendorf; Hamburg; Germany.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Asp770Asn (c.2308G>A) (p.Asp770Serfs*98); ClinVar=VCV000036604; Zygosity=Heterozygous; Note=Causes aberrant splicing (PubMed=34375846).
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple_edited; p.Arg943Ter (c.2827C>T); ClinVar=VCV000037039; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34375846).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A0YS ! UKEi070-A
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 6
//
RX   PubMed=34375846; DOI=10.1016/j.scr.2021.102489;
RA   Warnecke N., Ulmer B.M., Laufer S.D., Shibamiya A., Kramer E.,
RA   Neuber C., Hanke S., Behrens C.S., Loos M., Munch J., Kuhnisch J.,
RA   Klaassen S., Eschenhagen T., Patten-Hamel M., Carrier L., Mearini G.;
RT   "Generation of bi-allelic MYBPC3 truncating mutant and isogenic
RT   control from an iPSC line of a patient with hypertrophic
RT   cardiomyopathy.";
RL   Stem Cell Res. 55:102489-102489(2021).
//