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Cellosaurus XACHi002-A (CVCL_YM75)

[Text version]
Cell line name XACHi002-A
Accession CVCL_YM75
Resource Identification Initiative To cite this cell line use: XACHi002-A (RRID:CVCL_YM75)
Comments From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4065; GAA; Simple; p.Arg608Ter (c.1822C>T); ClinVar=VCV000972803; Zygosity=Heterozygous (PubMed=31743840).
  • Mutation; HGNC; 4065; GAA; Simple; p.Glu888Ter (c.2662G>T); ClinVar=VCV000578595; Zygosity=Heterozygous (PubMed=31743840).
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)
Sex of cell Male
Age at sampling 5M
Category Induced pluripotent stem cell
Publications

PubMed=31743840; DOI=10.1016/j.scr.2019.101621
Zhang Y.-M., Li A.-M., Wang J., Wang G.-X., Wang D.-Y.
Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
Stem Cell Res. 41:101621-101621(2019)

Cross-references
Cell line databases/resources hPSCreg; XACHi002-A
Encyclopedic resources Wikidata; Q98135105
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6