Cellosaurus cell line MCCI0004i-HCM (CVCL

Cellosaurus MCCI0004i-HCM (CVCL_UJ68)

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Cell line name

MCCI0004i-HCM

Synonyms

VG1

Accession

CVCL_UJ68

Resource Identification Initiative

To cite this cell line use: MCCI0004i-HCM (RRID:CVCL_UJ68)

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

Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Arg403Gln (c.1208G>A); ClinVar=VCV000014087; Zygosity=Heterozygous (PubMed=30508693).

Disease

Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

38Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=30508693

Markers:

Amelogenin	X
CSF1PO	10,12
D3S1358	15.3,16.2
D5S818	14,15
D7S820	10.3,12
D8S1179	14,15.3
D13S317	11,13
D16S539	9,12.2
D18S51	14,17
D21S11	29.1,30.1
FGA	20.3,22.3
Penta D	10
Penta E	11.4,14.4
TH01	7,9.3
TPOX	11
vWA	14,15.2

Publications

PubMed=30508693; DOI=10.1016/j.scr.2018.11.011
Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Melissa M. Mangala, Adam Hill, Henrietta Cserne Szappanos, Livia C. Hool, Christopher Semsarian;
Development of induced pluripotent stem cells from a patient with hypertrophic cardiomyopathy who carries the pathogenic myosin heavy chain 7 mutation p.Arg403Gln.
Stem Cell Res. 33:269-273(2018)

Cross-references

Encyclopedic resources

Wikidata; Q95985817

Entry history

Entry creation

25-Feb-2019

Last entry update

19-Dec-2024

Version number