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Cellosaurus IBBISTi009-A (CVCL_D6M2)

[Text version]
Cell line name IBBISTi009-A
Synonyms 1F97
Accession CVCL_D6M2
Resource Identification Initiative To cite this cell line use: IBBISTi009-A (RRID:CVCL_D6M2)
Comments From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple; p.Glu258Lys (c.772G>A); ClinVar=VCV000042792; Zygosity=Heterozygous (PubMed=38762696).
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)
Originate from same individual CVCL_D6M3 ! IBBISTi009-B
Sex of cell Female
Age at sampling 64Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38762696

Markers:
AmelogeninX
CSF1PO11,12
D2S133816,17
D3S135815,17
D5S81811,12
D7S82010,12
D8S117912,13
D13S31711,13
D16S53912,13
D18S5114,18
D19S43313,15.2
D21S1129
FGA20,22
TH016,9.3
TPOX8
vWA16,18

Run an STR similarity search on this cell line
Publications

PubMed=38762696; DOI=10.1007/s13577-024-01073-y; PMCID=PMC11194200
Ribeiro M., Jager J., Furtado M., Carvalho T., Cabral J.M.S., Brito D., do Carmo-Fonseca M., Martins S., da Rocha S.J.T.
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
Hum. Cell 37:1205-1214(2024)

Cross-references
Cell line databases/resources hPSCreg; IBBISTi009-A
Biological sample resources BioSamples; SAMEA115337447
Encyclopedic resources Wikidata; Q127382082
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2