Disease-specific induced pluripotent stem cells

被引：1754

作者：

Park, In-Hyun ^{[1
,2
,3
,12
]}

Arora, Natasha ^{[1
,2
,3
,12
]}

Huo, Hongguang ^{[1
,2
,3
,12
]}

Maherali, Nimet ^{[4
,5
,6
,7
,12
]}

Ahfeldt, Tim ^{[4
,5
,6
,10
,12
]}

Shimamura, Akiko ^{[8
,9
]}

Lensch, M. William ^{[1
,2
,3
,12
,14
]}

Cowan, Chad ^{[4
,5
,6
,11
,12
]}

Hochedlinger, Konrad ^{[4
,5
,6
,12
]}

Daley, George Q. ^{[1
,2
,3
,12
,13
,14
]}

机构：

[1] Childrens Hosp, Dept Med, Div Pediat Hematol Oncol, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Biol Chem & Mol Pharmacol, Boston, MA 02115 USA

[4] Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA

[5] Massachusetts Gen Hosp, Ctr Regenerat Med, Boston, MA 02114 USA

[6] Massachusetts Gen Hosp, Dept Stem Cell & Regenerat Biol, Boston, MA 02114 USA

[7] Harvard Univ, Dept Mol & Cellular Biol, Cambridge, MA 02138 USA

[8] Univ Washington, Div Hematol Oncol, Dept Pediat, Seattle, WA 98109 USA

[9] Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA

[10] Univ Med Ctr Hamburg Eppendorf, Dept Biochem & Mol Biol Mol Cell Biol 2, D-20246 Hamburg, Germany

[11] Stowers Med Inst, Boston, MA 02115 USA

[12] Harvard Stem Cell Inst, Boston, MA 02115 USA

[13] Brigham & Womens Hosp, Div Hematol, Boston, MA 02115 USA

[14] Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA

来源：

CELL | 2008年 / 134卷 / 05期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.cell.2008.07.041

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.

引用

页码：877 / 886

页数：10

共 32 条

[1] Chromosome 21 and Down syndrome: From genomics to pathophysiology [J].