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Cellosaurus GSDIb-iPSCs F#3 (CVCL_E5Z1)

[Text version]
Cell line name GSDIb-iPSCs F#3
Accession CVCL_E5Z1
Resource Identification Initiative To cite this cell line use: GSDIb-iPSCs F#3 (RRID:CVCL_E5Z1)
Comments Population: Japanese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
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_E5Z2 ! GSDIb-iPSCs H#1
CVCL_E5Z3 ! GSDIb-iPSCs H#2
CVCL_E5Z4 ! GSDIb-iPSCs H#3
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
Satoh D., Maeda T., Ito T., Nakajima Y., Ohte M., Ukai A., Nakamura K., Enosawa S., Toyota M., Miyagawa Y., Okita H., Kiyokawa N., Akutsu H., Umezawa A., Matsunaga T.
Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient.
Genes Cells 18:1053-1069(2013)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1