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Cellosaurus HPS3926 (CVCL_YS98)

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Cell line name HPS3926
Synonyms BRCi009-A
Accession CVCL_YS98
Resource Identification Initiative To cite this cell line use: HPS3926 (RRID:CVCL_YS98)
Comments Population: Japanese.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4056; G6PC1; Simple; p.Leu216Leu (c.648G>T); ClinVar=VCV000012003; Zygosity=Homozygous; Note=Produces an aberrant transcript (PubMed=33291009).
Disease Glycogen storage disease type Ia (NCIt: C162398)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (ORDO: Orphanet_79258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=33291009; DOI=10.1016/j.scr.2020.102095
Yukimi Katagami, Takayuki Kondo, Mika Suga, Yuichiro Yada, Keiko Imamura, Ran Shibukawa, Yukako Sagara, Yasue Okanishi, Kayoko Tsukita, Kenji Hirayama, Takumi Era, Haruhisa Inoue;
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a.
Stem Cell Res. 49:102095-102095(2020)

Cross-references
Cell line collections (Providers) RCB; HPS3926
Cell line databases/resources hPSCreg; BRCi009-A
Encyclopedic resources Wikidata; Q94220561
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9