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Cellosaurus XACHi001-A (CVCL_WZ29)

[Text version]
Cell line name XACHi001-A
Accession CVCL_WZ29
Resource Identification Initiative To cite this cell line use: XACHi001-A (RRID:CVCL_WZ29)
Comments From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10484; RYR2; Simple; p.Ala1855Asp (c.5564C>A); Zygosity=Heterozygous (PubMed=31382203).
  • Mutation; HGNC; 10582; SCN10A; Simple; p.Gln1362His (c.4086G>T); Zygosity=Heterozygous (PubMed=31382203).
Disease Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4M
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31382203

Markers:
AmelogeninX,Y
CSF1PO11,12
D1S165616
D2S133820,23
D3S135815
D5S81812
D6S104314,19
D7S82010,12
D8S117913
D12S39120
D13S3178,13
D16S5399,12
D18S5113,14
D19S43314,14.2
D21S1129,32.2
FGA22,23
Penta D10,12
Penta E12,16
TH019
TPOX8,11
vWA14,19

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Publications

PubMed=31382203; DOI=10.1016/j.scr.2019.101509
Zhang Y.-M., Li A.-M., Huang C.L.-H., Wang G.-X., Wang D.-Y.
Generation of induced pluripotent stem cells (iPSCs) from an infant with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations A1855D in RyR2 and Q1362H in SCN10A.
Stem Cell Res. 39:101509-101509(2019)

Cross-references
Cell line databases/resources hPSCreg; XACHi001-A
Encyclopedic resources Wikidata; Q98135103
Entry history
Entry creation06-Sep-2019
Last entry update29-Jun-2023
Version number6