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Cellosaurus MYB1#4 corrected (CVCL_E7AF)

[Text version]
Cell line name MYB1#4 corrected
Synonyms IsoMYB1#4 clone 37
Accession CVCL_E7AF
Resource Identification Initiative To cite this cell line use: MYB1#4 corrected (RRID:CVCL_E7AF)
Comments From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7551; MYBPC3; Simple_corrected; p.Lys600Asnfs*2 (c.1800delA); ClinVar=VCV000042568; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37317833).
  • Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Ile1927Phe (c.5779A>T); ClinVar=VCV000487639; Zygosity=Heterozygous (PubMed=37317833).
Disease Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E7AD (MYB1#4)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=37317833; DOI=10.1161/CIRCRESAHA.122.321951
Escriba R., Larranaga-Moreira J.M., Richaud-Patin Y., Pourchet L., Lazis I., Jimenez-Delgado S., Morillas-Garcia A., Ortiz-Genga M., Ochoa J.P., Carreras Gorgals D., Perez G.J., de la Pompa J.L., Brugada R., Monserrat L., Barriales-Villa R., Raya A.
iPSC-based modeling of variable clinical presentation in hypertrophic cardiomyopathy.
Circ. Res. 133:108-119(2023)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1