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Cellosaurus CMT1A-1-hiPSCs 1 (CVCL_A4EY)

[Text version]
Cell line name CMT1A-1-hiPSCs 1
Accession CVCL_A4EY
Resource Identification Initiative To cite this cell line use: CMT1A-1-hiPSCs 1 (RRID:CVCL_A4EY)
Comments From: Sun Yat-sen University First Affiliated Hospital; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (PubMed=29276154).
Disease Charcot-Marie-Tooth disease type 1A (NCIt: C75468)
Charcot-Marie-Tooth disease type 1A (ORDO: Orphanet_101081)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4EZ ! CMT1A-1-hiPSCs 2
CVCL_A4FA ! CMT1A-1-hiPSCs 3
Sex of cell Male
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=29276154; DOI=10.1016/j.stemcr.2017.11.013; PMCID=PMC5768917
Shi L., Huang L.-H., He R.-J., Huang W.-J., Wang H.-Y., Lai X.-Q., Zou Z.-W., Sun J.-Q., Ke Q., Zheng M.-Y., Lu X.-L., Pei Z., Su H.-X., Xiang A.P., Li W.-Q., Yao X.-L.
Modeling the pathogenesis of Charcot-Marie-Tooth disease type 1A using patient-specific iPSCs.
Stem Cell Reports 10:120-133(2018)

Cross-references
Cell line databases/resources SKIP; SKIP003055
Encyclopedic resources Wikidata; Q105506706
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6