Disease-specific induced pluripotent stem cells.
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.
Park
In-Hyun
IH
Department of Medicine, Division of Pediatric Hematology Oncology, Children's Hospital Boston, and Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Arora
Natasha
N
Huo
Hongguang
H
Maherali
Nimet
N
Ahfeldt
Tim
T
Shimamura
Akiko
A
Lensch
M William
MW
Cowan
Chad
C
Hochedlinger
Konrad
K
Daley
George Q
GQ
D001854:Bone Marrow Cells / Q000166:cytology; D002460:Cell Line; D005347:Fibroblasts / Q000166:cytology; D030342:Genetic Diseases, Inborn / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D059630:Mesenchymal Stem Cells / Q000166:cytology; D009154:Mutation; D039904:Pluripotent Stem Cells / Q000166:cytology*