Cellosaurus logo
expasy logo

Cellosaurus JUCGRMi004-A (CVCL_D0GU)

[Text][XML][JSON]
Cell line name JUCGRMi004-A
Synonyms CMTA6
Accession CVCL_D0GU
Resource Identification Initiative To cite this cell line use: JUCGRMi004-A (RRID:CVCL_D0GU)
Comments From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Heterozygous (PubMed=38537501).
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)
Sex of cell Male
Age at sampling 70Y
Category Induced pluripotent stem cell
Publications

PubMed=38537501; DOI=10.1016/j.scr.2024.103401
Xing Liu, Kei-ichi Ishikawa, Nobutaka Hattori, Wado Akamatsu;
Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication.
Stem Cell Res. 77:103401-103401(2024)

Cross-references
Cell line databases/resources hPSCreg; JUCGRMi004-A
Biological sample resources BioSamples; SAMEA113971000
Encyclopedic resources Wikidata; Q123032772
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4