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Cellosaurus NCATS-CL9316 (CVCL_B5TS)

[Text version]
Cell line name NCATS-CL9316
Accession CVCL_B5TS
Resource Identification Initiative To cite this cell line use: NCATS-CL9316 (RRID:CVCL_B5TS)
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 (from parent cell line).
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_1L20 (GM20122)
Sex of cell Male
Age at sampling 3M
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Encyclopedic resources Wikidata; Q112129411
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6