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Cellosaurus ZJUCHi003-A (CVCL_D4ZF)

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Cell line name ZJUCHi003-A
Synonyms ZJUCHi003
Accession CVCL_D4ZF
Resource Identification Initiative To cite this cell line use: ZJUCHi003-A (RRID:CVCL_D4ZF)
Comments From: Children's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:6250; KCNH1; Simple; p.Arg357Gln (c.1070G>A); ClinVar=VCV000279981; Zygosity=Heterozygous; Note=De novo mutation (PubMed=38372889).
Disease Zimmermann-Laband syndrome 1 (NCIt: C205647)
Zimmermann-Laband syndrome (ORDO: Orphanet_3473)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38372889

Markers:
AmelogeninX
CSF1PO10,12
D1S165616,20.3
D2S44111
D2S133819,24
D3S135815,16
D5S8187,11
D6S104311,17
D7S82011
D8S117910,16
D10S124813,14
D12S39118,19
D13S3178,12
D16S53911,13
D18S5114,15
D19S43315,16
D21S1128,30
D22S104511,15
FGA19,26
Penta D8,13
Penta E11,12
SE3321,31.2
TH017
TPOX8
vWA14,16

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Publications

PubMed=38372889; DOI=10.1007/s13577-024-01031-8
Die Chen, Ji-Mei Su, Xue-Ying Huang, Hong-Yu Chen, Tie-Jia Jiang, Chun-Chun Zhi, Zuo-Lin Zhou, Bing Zhang, Lan Yu, Xiao-Ling Jiang;
Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.
Hum. Cell 37:832-839(2024)

Cross-references
Cell line databases/resources hPSCreg; ZJUCHi003-A
Biological sample resources BioSamples; SAMEA113941585
Encyclopedic resources Wikidata; Q127384773
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3