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Cellosaurus ZJUCHi001-A (CVCL_VT14)

[Text version]
Cell line name ZJUCHi001-A
Accession CVCL_VT14
Resource Identification Initiative To cite this cell line use: ZJUCHi001-A (RRID:CVCL_VT14)
Comments From: Children's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; 7225; MPZ; Simple; p.Arg98Cys (c.292C>T); ClinVar=VCV000014175; Zygosity=Heterozygous (PubMed=30785048).
Disease Charcot-Marie-Tooth disease type 1B (NCIt: C118782)
Charcot-Marie-Tooth disease type 1B (ORDO: Orphanet_101082)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=30785048; DOI=10.1016/j.scr.2019.101407
Xu J.-K., Wang Y.-P., He J., Xia W.-C., Zou Y., Ruan W.-C., Lou Q., Li Y., Li H.-F., Chen W.
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.
Stem Cell Res. 35:101407-101407(2019)

Cross-references
Cell line databases/resources hPSCreg; ZJUCHi001-A
Encyclopedic resources Wikidata; Q98136539
Entry history
Entry creation25-Feb-2019
Last entry update10-Sep-2024
Version number8