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Cellosaurus UKEi070-A-2 (CVCL_A0YU)

[Text version]
Cell line name UKEi070-A-2
Synonyms cpHet; Mut 103
Accession CVCL_A0YU
Resource Identification Initiative To cite this cell line use: UKEi070-A-2 (RRID:CVCL_A0YU)
Comments From: University Medical Center Hamburg-Eppendorf; Hamburg; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple; p.Asp770Asn (c.2308G>A) (p.Asp770Serfs*98); ClinVar=VCV000036604; Zygosity=Heterozygous; Note=Causes aberrant splicing (PubMed=34375846).
  • Mutation; HGNC; 7551; MYBPC3; Simple_edited; p.Arg943Ter (c.2827C>T); ClinVar=VCV000037039; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34375846).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A0YS (UKEi070-A)
Sex of cell Female
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=34375846; DOI=10.1016/j.scr.2021.102489
Warnecke N., Ulmer B.M., Laufer S.D., Shibamiya A., Kramer E., Neuber C., Hanke S., Behrens C.S., Loos M., Munch J., Kuhnisch J., Klaassen S., Eschenhagen T., Patten-Hamel M., Carrier L., Mearini G.
Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
Stem Cell Res. 55:102489-102489(2021)

Cross-references
Cell line databases/resources hPSCreg; UKEi070-A-2
Biological sample resources BioSamples; SAMEA8944461
Encyclopedic resources Wikidata; Q108821442
Entry history
Entry creation23-Sep-2021
Last entry update05-Oct-2023
Version number6