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Cellosaurus NJDTHi001-A (CVCL_A1NE)

[Text version]
Cell line name NJDTHi001-A
Accession CVCL_A1NE
Resource Identification Initiative To cite this cell line use: NJDTHi001-A (RRID:CVCL_A1NE)
Comments From: Department of Cardio-Thoracic Surgery, Nanjing Drum Tower Hospital; Nanjing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6501; LAMP2; Simple; p.Leu156Ter (c.467T>G); ClinVar=VCV001323203; Zygosity=Hemizygous (PubMed=33038746).
Disease Glycogen storage disease type IIb (NCIt: C84735)
Glycogen storage disease due to LAMP-2 deficiency (ORDO: Orphanet_34587)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=33038746; DOI=10.1016/j.scr.2020.101994
Zhu X.-Y., Wang J.-X., Chong H.-S., Wang J.-X., Wang D.-J.
Generation of induced pluripotent stem cells (NJDTHi001-A) from a Danon disease child with mutation of c.467 T > G in LAMP2 gene.
Stem Cell Res. 49:101994-101994(2020)

Cross-references
Cell line databases/resources hPSCreg; NJDTHi001-A
Biological sample resources BioSamples; SAMEA7346334
Encyclopedic resources Wikidata; Q102114644
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6