Cellosaurus cell line NJDTHi001-A (CVCL

Cross-references
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; 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 Xi-Yu Zhu, Jun-Xia Wang, Ho-Shun Chong, Jia-Xian Wang, Dong-Jin Wang; 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)
Cell line databases/resources	hPSCreg; NJDTHi001-A
Biological sample resources	BioSamples; SAMEA7346334
Encyclopedic resources	Wikidata; Q102114644
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7