ID   CMT1A-1-hiPSCs 3
AC   CVCL_A4FA
DR   SKIP; SKIP003057
DR   Wikidata; Q105506710
RX   PubMed=29276154;
CC   From: Sun Yat-sen University First Affiliated Hospital; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (PubMed=29276154).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75468; Charcot-Marie-Tooth disease type 1A
DI   ORDO; Orphanet_101081; Charcot-Marie-Tooth disease type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4EY ! CMT1A-1-hiPSCs 1
OI   CVCL_A4EZ ! CMT1A-1-hiPSCs 2
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=29276154; DOI=10.1016/j.stemcr.2017.11.013; PMCID=PMC5768917;
RA   Shi L., Huang L.-H., He R.-J., Huang W.-J., Wang H.-Y., Lai X.-Q.,
RA   Zou Z.-W., Sun J.-Q., Ke Q., Zheng M.-Y., Lu X.-L., Pei Z., Su H.-X.,
RA   Xiang A.P., Li W.-Q., Yao X.-L.;
RT   "Modeling the pathogenesis of Charcot-Marie-Tooth disease type 1A
RT   using patient-specific iPSCs.";
RL   Stem Cell Reports 10:120-133(2018).
//