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Cellosaurus ZZUNEUi016-A (CVCL_A4ZR)

[Text version]
Cell line name ZZUNEUi016-A
Accession CVCL_A4ZR
Resource Identification Initiative To cite this cell line use: ZZUNEUi016-A (RRID:CVCL_A4ZR)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7577; MYH7; Simple; p.Ala355Thr (c.1063G>A); ClinVar=VCV000042820; Zygosity=Heterozygous (PubMed=33636496).
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 8Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33636496

Markers:
AmelogeninX
CSF1PO12
D2S133818
D3S135815,16
D5S81810,12
D6S104318,19
D7S82010
D8S117910,16
D12S39116,18
D13S3178,9
D16S53910,12
D18S5114,16
D19S43313,14
D21S1129,33.2
FGA22,25
Penta D9,11
Penta E13,20
TH019
TPOX8,11
vWA14,16

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Publications

PubMed=33636496; DOI=10.1016/j.scr.2021.102262
Guo G.-L., Fu W.-R., Li X.-W., Dong J.-Z., Zhao X.-Y., Zhang Y.-Z.
Generation of an iPSC line (ZZUNEUi016-A) derived from a hypertrophic cardiomyopathy patient with the heterozygote mutation in MYH7 gene.
Stem Cell Res. 53:102262-102262(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi016-A
Encyclopedic resources Wikidata; Q107117584
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4