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Cellosaurus TRNDi007-B (CVCL_UL27)

[Text version]

Cell line name TRNDi007-B
Synonyms HT521B
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.
Sequence variations Homozygous for GAA p.Arg854Ter (c.2560C>T) (ClinVar=VCV000004034) (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

PubMed=31026687; DOI=10.1016/j.scr.2019.101435
Cheng Y.-S., Li R., Baskfield A., Beers J., Zou J., Liu C., 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)

Cell line databases/resources hPSCreg; TRNDi007-B
Entry history
Entry creation25-Feb-2019
Last entry update02-Jul-2020
Version number4