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Cellosaurus FJMA0001i-HCM (CVCL_A3ZE)

[Text version]
Cell line name FJMA0001i-HCM
Synonyms 20180803 CQ-C2-P6
Accession CVCL_A3ZE
Resource Identification Initiative To cite this cell line use: FJMA0001i-HCM (RRID:CVCL_A3ZE)
Comments From: Fujian Academy of Medical Sciences; Fuzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Cys1124Leufs*25 (c.3369_3370insC); Zygosity=Heterozygous (PubMed=33388705).
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)
Sex of cell Male
Age at sampling 62Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33388705

Markers:
AmelogeninX,Y
CSF1PO10,12
D1S165613,18
D2S133821,24
D3S135815,16
D5S81811,13
D6S104319,20
D7S82010,11
D8S117915
D12S39121,22
D13S3179,12
D16S5399
D18S5113,18
D19S43311,13
D21S1129,32.2
FGA19,27
Penta D10,13
Penta E15
TH017,9
TPOX8,9
vWA14,18

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Publications

PubMed=33388705; DOI=10.1016/j.scr.2020.102144
Jin J.-J., Lu L.-H., Chen J.-Y., Wang K., Han J.-Y., Xue S.-J., Weng G.-X.
Generation of an induced pluripotential stem cell (iPSC) line from a patient with hypertrophic cardiomyopathy carrying myosin binding protein C (MYBPC3) c.3369-3370 insC mutation.
Stem Cell Res. 50:102144-102144(2021)

Cross-references
Encyclopedic resources Wikidata; Q105506869
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number5