ID   MYB#2.2
AC   CVCL_E7AE
SY   MYB 2#2; MYB2.2
RX   PubMed=37317833;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+MYB2+2+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/MYB2%25202%2520Anexo.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Lys600Asnfs*2 (c.1800delA); ClinVar=VCV000042568; 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.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 13
ST   D16S539: 11
ST   D18S51: 12,16
ST   D19S433: 15,15.2
ST   D21S11: 28
ST   D2S1338: 17,24
ST   D3S1358: 15
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   D8S1179: 12,15
ST   FGA: 23
ST   TH01: 8,9.3
ST   TPOX: 9,11
ST   vWA: 16,18
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)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
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).
//