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Cellosaurus MCCI0003i-HCM (CVCL_UG23)

[Text version]
Cell line name MCCI0003i-HCM
Synonyms IK1
Accession CVCL_UG23
Resource Identification Initiative To cite this cell line use: MCCI0003i-HCM (RRID:CVCL_UG23)
Comments From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
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 58Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=30316040

Markers:
AmelogeninX,Y
CSF1PO10,12
D3S135814,14.3
D5S81815,16
D7S8208.2,14
D8S117911,13
D13S31714,15
D16S53911,13.1
D18S5117.2,18.2
D21S1128,29.1
FGA19,22.3
Penta D9.4,12.4
Penta E12,20.2
TH016.1,10
TPOX8,9
vWA15.2,18

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Publications

PubMed=30316040; DOI=10.1016/j.scr.2018.10.009
Holliday M., Ross S.B., Lim S., Semsarian C.
Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation.
Stem Cell Res. 33:56-59(2018)

Cross-references
Encyclopedic resources Wikidata; Q95985816
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9