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Cellosaurus SZ-Pompe4 (CVCL_YL62)

[Text version]
Cell line name SZ-Pompe4
Synonyms SZ-Pompe4 PGD; Pompe#4
Accession CVCL_YL62
Resource Identification Initiative To cite this cell line use: SZ-Pompe4 (RRID:CVCL_YL62)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0474.
Miscellaneous: Sex of donor from personal communication of Eiges, Rachel.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg819Pro (c.2456G>C); ClinVar=VCV001693550; Zygosity=Homozygous (NIHhESC=NIHhESC-20-0474).
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 Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0474
Encyclopedic resources Wikidata; Q98133040
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number11