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Cellosaurus TRNDi007-B (CVCL_UL27)

[Text version]
Cell line name TRNDi007-B
Synonyms NCATS-CL9317; HT521B; GM28229
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; 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
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
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)

Cross-references
Cell line collections (Providers) Coriell; GM28229
Cell line databases/resources hPSCreg; TRNDi007-B
Encyclopedic resources Wikidata; Q98133596
Entry history
Entry creation25-Feb-2019
Last entry update05-Oct-2023
Version number11