ID   MYB1#4 corrected
AC   CVCL_E7AF
SY   IsoMYB1#4 clone 37
RX   PubMed=37317833;
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple_corrected; p.Lys600Asnfs*2 (c.1800delA); ClinVar=VCV000042568; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37317833).
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Ile1927Phe (c.5779A>T); ClinVar=VCV000487639; Zygosity=Heterozygous (PubMed=37317833).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E7AD ! MYB1#4
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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RX   PubMed=37317833; DOI=10.1161/CIRCRESAHA.122.321951;
RA   Escriba R., Larranaga-Moreira J.M., Richaud-Patin Y., Pourchet L.,
RA   Lazis I., Jimenez-Delgado S., Morillas-Garcia A., Ortiz-Genga M.,
RA   Ochoa J.P., Carreras Gorgals D., Perez G.J., de la Pompa J.L.,
RA   Brugada R., Monserrat L., Barriales-Villa R., Raya A.;
RT   "iPSC-based modeling of variable clinical presentation in hypertrophic
RT   cardiomyopathy.";
RL   Circ. Res. 133:108-119(2023).
//