Home  |  Contact

Cellosaurus HPS3926 (CVCL_YS98)

[Text version]

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.
Derived from sampling site: Cell type=Fibroblast.
Sequence variations Mutation; HGNC; 4056; G6PC; 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

PubMed=33291009; DOI=10.1016/j.scr.2020.102095
Katagami Y., Kondo T., Suga M., Yada Y., Imamura K., Shibukawa R., Sagara Y., Okanishi Y., Tsukita K., Hirayama K., Era T., Inoue H.
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)

Cell line collections RCB; HPS3926
Cell line databases/resources hPSCreg; BRCi009-A
Encyclopedic resources Wikidata; Q94220561
Entry history
Entry creation12-Mar-2020
Last entry update16-Dec-2021
Version number5