Cellosaurus cell line MCCI0002i-HCM (CVCL

Cellosaurus MCCI0002i-HCM (CVCL_QX49)

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Cell line name

MCCI0002i-HCM

Accession

CVCL_QX49

Resource Identification Initiative

To cite this cell line use: MCCI0002i-HCM (RRID:CVCL_QX49)

Comments

From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Val698Ala (c.2093T>C); ClinVar=VCV000042878; Zygosity=Heterozygous (PubMed=28395747).

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

Male

Age at sampling

43Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=28395747

Markers:

Amelogenin	X,Y
CSF1PO	10,11
D2S1338	17
D3S1358	14,17
D5S818	11,12
D7S820	10,13
D8S1179	10,12
D13S317	11,13
D16S539	13,14
D18S51	14,17
D19S433	12,15
D21S11	28,29
FGA	20,24
Penta D	11,15
Penta E	13
TH01	6,7,9.3
TPOX	8
vWA	16,17

Publications

PubMed=28395747; DOI=10.1016/j.scr.2017.02.015
Samantha Barratt Ross, Stuart T. Fraser, Natalie Nowak, Christopher Semsarian;
Generation of induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient with the pathogenic variant p.Val698Ala in beta-myosin heavy chain (MYH7) gene.
Stem Cell Res. 20:88-90(2017)

Cross-references

Encyclopedic resources

Wikidata; Q54904263

Entry history

Entry creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number