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Cellosaurus KRIBBi003-A (CVCL_B3V0)

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Cell line name KRIBBi003-A
Synonyms GSD IXa iPSCs
Accession CVCL_B3V0
Resource Identification Initiative To cite this cell line use: KRIBBi003-A (RRID:CVCL_B3V0)
Comments From: Korea Research Institute of Bioscience and Biotechnology; Daejeon; South Korea.
Population: Korean.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:8926; PHKA2; Simple; p.Ala1076Glufs*40 (c.3227_3231del); Zygosity=Hemizygous (PubMed=34740118).
Disease Glycogen storage disease type IX (NCIt: C122662)
Glycogen storage disease due to phosphorylase kinase deficiency (ORDO: Orphanet_370)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=34740118; DOI=10.1016/j.scr.2021.102584
Yongbo Shin, Seon Ju Mun, Jaeseo Lee, Kyung-Sook Chung, Misuk Kim, Chong Kun Cheon, Myung Jin Son;
Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa.
Stem Cell Res. 57:102584-102584(2021)

Cross-references
Cell line databases/resources hPSCreg; KRIBBi003-A
Encyclopedic resources Wikidata; Q110432999
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5