TY - JOUR
T1 - A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G > A mutation, ISMMSi002-B, for disease modeling
AU - Klein, Sandra
AU - Dvornik, Jill L.
AU - Yarrabothula, Akshitha R.
AU - Schaniel, Christoph
N1 - Publisher Copyright:
© 2017 The Authors
PY - 2017/8
Y1 - 2017/8
N2 - Fibroblasts of a 28-year-old female with Marfan syndrome (MFS) due to a heterozygous FBN1 c.4082G > A mutation were reprogrammed using the Sendai virus delivery method. The established human induced pluripotent stem cell (hiPSC) line named ISMMSi002-B expresses pluripotency markers, has a normal karyotype, carries the specific FBN1 mutation and is able to differentiate into three germ layers in vitro. ISMMSi002-B has utility in studying MFS pathogenesis, including skeletal abnormalities, cardiomyopathy, and vascular smooth muscle cell dysfunction associated with aortic aneurysm. Furthermore, it can serve as a platform for drug discovery.
AB - Fibroblasts of a 28-year-old female with Marfan syndrome (MFS) due to a heterozygous FBN1 c.4082G > A mutation were reprogrammed using the Sendai virus delivery method. The established human induced pluripotent stem cell (hiPSC) line named ISMMSi002-B expresses pluripotency markers, has a normal karyotype, carries the specific FBN1 mutation and is able to differentiate into three germ layers in vitro. ISMMSi002-B has utility in studying MFS pathogenesis, including skeletal abnormalities, cardiomyopathy, and vascular smooth muscle cell dysfunction associated with aortic aneurysm. Furthermore, it can serve as a platform for drug discovery.
UR - http://www.scopus.com/inward/record.url?scp=85022339698&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2017.06.016
DO - 10.1016/j.scr.2017.06.016
M3 - Article
C2 - 28925368
AN - SCOPUS:85022339698
SN - 1873-5061
VL - 23
SP - 73
EP - 76
JO - Stem Cell Research
JF - Stem Cell Research
ER -