ID   IBBISTi009-A
AC   CVCL_D6M2
SY   1F97
DR   BioSamples; SAMEA115337447
DR   hPSCreg; IBBISTi009-A
DR   Wikidata; Q127382082
RX   PubMed=38762696;
CC   From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Glu258Lys (c.772G>A); ClinVar=VCV000042792; Zygosity=Heterozygous (PubMed=38762696).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=38762696
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11,13
ST   D16S539: 12,13
ST   D18S51: 14,18
ST   D19S433: 13,15.2
ST   D21S11: 29
ST   D2S1338: 16,17
ST   D3S1358: 15,17
ST   D5S818: 11,12
ST   D7S820: 10,12
ST   D8S1179: 12,13
ST   FGA: 20,22
ST   TH01: 6,9.3
ST   TPOX: 8
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)
OI   CVCL_D6M3 ! IBBISTi009-B
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38762696; DOI=10.1007/s13577-024-01073-y; PMCID=PMC11194200;
RA   Ribeiro M., Jager J., Furtado M., Carvalho T., Cabral J.M.S., Brito D.,
RA   do Carmo-Fonseca M., Martins S., da Rocha S.J.T.;
RT   "Generation of induced pluripotent stem cells from an individual with
RT   early onset and severe hypertrophic cardiomyopathy linked to MYBPC3:
RT   c.772G > A mutation.";
RL   Hum. Cell 37:1205-1214(2024).
//