Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defects in motile cilia and is known to occur in about 1 in 20,000 live births (Horani and Ferkol, 2018). Among the many genes associated with PCD, NME5, a gene encoding a protein involved in ciliary function, was recently repor...
Main Authors: | Anais Sahabian, Laura von Schlehdorn, Nora Drick, Isabell Pink, Julia Dahlmann, Alexandra Haase, Gudrun Göhring, Tobias Welte, Ulrich Martin, Felix C. Ringshausen, Ruth Olmer |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2020-10-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120302890 |
Similar Items
-
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene
by: Julia Dahlmann, et al.
Published: (2020-07-01) -
Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene
by: Nora Drick, et al.
Published: (2020-07-01) -
Generation of a NKX2.1 – p63 double transgenic knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-4)
by: Nora Drick, et al.
Published: (2020-01-01) -
Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene
by: Praeploy Pongpamorn, et al.
Published: (2020-03-01) -
Generation of a NKX2.1 knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-2)
by: Ruth Olmer, et al.
Published: (2019-08-01)