ID   GSDIb-iPSCs H#5
AC   CVCL_E5Z6
RX   PubMed=24581426;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:4061; SLC37A4; Simple; c.148+1G>A (IVS1,G-A,+1); ClinVar=VCV000006932; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=24581426).
CC   Sequence variation: Mutation; HGNC; HGNC:4061; SLC37A4; Simple; p.Trp118Arg (c.352T>C); ClinVar=VCV000006923; Zygosity=Heterozygous (PubMed=24581426).
CC   Derived from site: In situ; Liver; UBERON=UBERON_0002107.
DI   NCIt; C122661; Glycogen storage disease type Ib
DI   ORDO; Orphanet_79259; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E5YZ ! GSDIb-iPSCs F#1
OI   CVCL_E5Z0 ! GSDIb-iPSCs F#2
OI   CVCL_E5Z1 ! GSDIb-iPSCs F#3
OI   CVCL_E5Z2 ! GSDIb-iPSCs H#1
OI   CVCL_E5Z3 ! GSDIb-iPSCs H#2
OI   CVCL_E5Z4 ! GSDIb-iPSCs H#3
OI   CVCL_E5Z5 ! GSDIb-iPSCs H#4
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=24581426; DOI=10.1111/gtc.12101;
RA   Satoh D., Maeda T., Ito T., Nakajima Y., Ohte M., Ukai A., Nakamura K.,
RA   Enosawa S., Toyota M., Miyagawa Y., Okita H., Kiyokawa N., Akutsu H.,
RA   Umezawa A., Matsunaga T.;
RT   "Establishment and directed differentiation of induced pluripotent
RT   stem cells from glycogen storage disease type Ib patient.";
RL   Genes Cells 18:1053-1069(2013).
//