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Cellosaurus GM20122 (CVCL_1L20)

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Cell line name GM20122
Accession CVCL_1L20
Resource Identification Initiative To cite this cell line use: GM20122 (RRID:CVCL_1L20)
Comments 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 (Coriell=GM20122).
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 Children:
CVCL_B5TS (NCATS-CL9316)
Sex of cell Male
Age at sampling 3M
Category Finite cell line
Publications

PubMed=33375166; DOI=10.3390/cells10010008; PMCID=PMC7822217
Yu-Shan Cheng, Shu Yang, Jun-Jie Hong, Rong Li, Jeanette K. Beers, Ji-Zhong Zou, Wen-Wei Huang, Wei Zheng;
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; GM20122
Cell line databases/resources CLO; CLO_0027717
Encyclopedic resources Wikidata; Q54850805
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13