Cellosaurus cell line GSDIb-iPSCs H#3 (CVCL

Cellosaurus GSDIb-iPSCs H#3 (CVCL_E5Z4)

Entry history
Cell line name	GSDIb-iPSCs H#3
Accession	CVCL_E5Z4
Resource Identification Initiative	To cite this cell line use: GSDIb-iPSCs H#3 (RRID:CVCL_E5Z4)
Comments	Population: Japanese. Derived from site: In situ; Liver; UBERON=UBERON_0002107.
Sequence variations	Mutation; HGNC; HGNC:4061; SLC37A4; Simple; c.148+1G>A (IVS1,G-A,+1); ClinVar=VCV000006932; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=24581426). Mutation; HGNC; HGNC:4061; SLC37A4; Simple; p.Trp118Arg (c.352T>C); ClinVar=VCV000006923; Zygosity=Heterozygous (PubMed=24581426).
Disease	Glycogen storage disease type Ib (NCIt: C122661) Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (ORDO: Orphanet_79259)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_E5YZ ! GSDIb-iPSCs F#1 CVCL_E5Z0 ! GSDIb-iPSCs F#2 CVCL_E5Z1 ! GSDIb-iPSCs F#3 CVCL_E5Z2 ! GSDIb-iPSCs H#1 CVCL_E5Z3 ! GSDIb-iPSCs H#2 CVCL_E5Z5 ! GSDIb-iPSCs H#4 CVCL_E5Z6 ! GSDIb-iPSCs H#5
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=24581426; DOI=10.1111/gtc.12101 Daisuke Satoh, Tohru Maeda, Tetsuya Ito, Yoko Nakajima, Mariko Ohte, Akane Ukai, Katsunori Nakamura, Shin Enosawa, Masashi Toyota, Yoshitaka Miyagawa, Hajime Okita ...Show all 15 authors... , Nobutaka Kiyokawa, Hidenori Akutsu, Akihiro Umezawa, Tamihide Matsunaga; Show fewer authors Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient. Genes Cells 18:1053-1069(2013)
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1