PMID- 31071499
OWN - NLM
STAT- MEDLINE
DCOM- 20200311
LR  - 20211109
IS  - 1876-7753 (Electronic)
IS  - 1873-5061 (Print)
IS  - 1873-5061 (Linking)
VI  - 37
DP  - 2019 May
TI  - Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter 
      syndrome patient carrying a hemizygous 208insC mutation in the IDS gene.
PG  - 101451
LID - S1873-5061(19)30081-9 [pii]
LID - 10.1016/j.scr.2019.101451 [doi]
AB  - Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare 
      X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 
      2-sulfatase (I2S). This is a multisystem disorder with significant variation in 
      symptoms. Here, we document a human induced pluripotent stem cell (iPSC) line 
      generated from dermal fibroblasts of a patient with Hunter syndrome containing a 
      hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS 
      gene. The generation of this line will allow development of cell-based models for 
      drug development, as well as the study of disease pathophysiology.
CI  - Published by Elsevier B.V.
FAU - Hong, Junjie
AU  - Hong J
AD  - National Center for Advancing Translational Sciences, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Xu, Miao
AU  - Xu M
AD  - National Center for Advancing Translational Sciences, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Li, Rong
AU  - Li R
AD  - National Center for Advancing Translational Sciences, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Cheng, Yu-Shan
AU  - Cheng YS
AD  - National Center for Advancing Translational Sciences, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Kouznetsova, Jennifer
AU  - Kouznetsova J
AD  - National Center for Advancing Translational Sciences, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Beers, Jeanette
AU  - Beers J
AD  - iPSC core, National Heart, Lung and Blood Institute, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Liu, Chengyu
AU  - Liu C
AD  - Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Zou, Jizhong
AU  - Zou J
AD  - iPSC core, National Heart, Lung and Blood Institute, National Institutes of 
      Health, Bethesda, MD, USA.
FAU - Zheng, Wei
AU  - Zheng W
AD  - National Center for Advancing Translational Sciences, National Institutes of 
      Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.
LA  - eng
GR  - Z99 TR999999/Intramural NIH HHS/United States
GR  - ZIA TR000018-04/Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
DEP - 20190425
PL  - England
TA  - Stem Cell Res
JT  - Stem cell research
JID - 101316957
RN  - 0 (Glycoproteins)
RN  - 0 (IDS protein, human)
SB  - IM
MH  - Animals
MH  - *Cell Differentiation
MH  - Cells, Cultured
MH  - *Cellular Reprogramming
MH  - Child, Preschool
MH  - Fibroblasts/metabolism/*pathology
MH  - Glycoproteins/*genetics
MH  - Humans
MH  - Induced Pluripotent Stem Cells/metabolism/*pathology
MH  - Male
MH  - Mice
MH  - Mice, Inbred NOD
MH  - Mice, SCID
MH  - Mucopolysaccharidosis II/*genetics/pathology
MH  - *Mutation
MH  - Phenotype
MH  - Teratoma/*etiology/pathology
PMC - PMC6642610
MID - NIHMS1530899
EDAT- 2019/05/10 06:00
MHDA- 2020/03/12 06:00
PMCR- 2019/07/20
CRDT- 2019/05/10 06:00
PHST- 2019/02/21 00:00 [received]
PHST- 2019/04/09 00:00 [revised]
PHST- 2019/04/23 00:00 [accepted]
PHST- 2019/05/10 06:00 [pubmed]
PHST- 2020/03/12 06:00 [medline]
PHST- 2019/05/10 06:00 [entrez]
PHST- 2019/07/20 00:00 [pmc-release]
AID - S1873-5061(19)30081-9 [pii]
AID - 10.1016/j.scr.2019.101451 [doi]
PST - ppublish
SO  - Stem Cell Res. 2019 May;37:101451. doi: 10.1016/j.scr.2019.101451. Epub 2019 Apr 
      25.