ID   NJDTHi001-A
AC   CVCL_A1NE
DR   BioSamples; SAMEA7346334
DR   hPSCreg; NJDTHi001-A
DR   Wikidata; Q102114644
RX   PubMed=33038746;
CC   From: Department of Cardio-Thoracic Surgery, Nanjing Drum Tower Hospital; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6501; LAMP2; Simple; p.Leu156Ter (c.467T>G); ClinVar=VCV001323203; Zygosity=Hemizygous (PubMed=33038746).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84735; Glycogen storage disease type IIb
DI   ORDO; Orphanet_34587; Glycogen storage disease due to LAMP-2 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
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RX   PubMed=33038746; DOI=10.1016/j.scr.2020.101994;
RA   Zhu X.-Y., Wang J.-X., Chong H.-S., Wang J.-X., Wang D.-J.;
RT   "Generation of induced pluripotent stem cells (NJDTHi001-A) from a
RT   Danon disease child with mutation of c.467 T > G in LAMP2 gene.";
RL   Stem Cell Res. 49:101994-101994(2020).
//