Cellosaurus cell line TRNDi007-B (CVCL

Cellosaurus TRNDi007-B (CVCL_UL27)

Cross-references
Cell line name	TRNDi007-B
Synonyms	NCATS-CL9317; HT521B; GM28229; GM28229*B
Accession	CVCL_UL27
Resource Identification Initiative	To cite this cell line use: TRNDi007-B (RRID:CVCL_UL27)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Population: African American. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (PubMed=31026687).
Disease	Glycogen storage disease type II (NCIt: C84734) Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_1K46 (GM00248)
Sex of cell	Male
Age at sampling	5M
Category	Induced pluripotent stem cell
Publications	PubMed=31026687; DOI=10.1016/j.scr.2019.101435; PMCID=PMC6658133 Cheng Y.-S., Li R., Baskfield A., Beers J.K., Zou J.-H., Liu C.-Y., Zheng W. A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene. Stem Cell Res. 37:101435-101435(2019) PubMed=33375166; DOI=10.3390/cells10010008; PMCID=PMC7822217 Cheng Y.-S., Yang S., Hong J.-J., Li R., Beers J.K., Zou J.-Z., Huang W.-W., Zheng W. Modeling CNS involvement in Pompe disease using neural stem cells generated from patient-derived induced pluripotent stem cells. Cells 10:8.1-8.14(2021)
Cell line collections (Providers)	Coriell; GM28229
Cell line databases/resources	hPSCreg; TRNDi007-B
Encyclopedic resources	Wikidata; Q98133596
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	13