Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line
The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the SLC16A2 gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a pat...
Saved in:
| Main Authors: | Katarzyna A. Ludwik, Robert Opitz, Sabine Jyrch, Matthias Megges, Peter Kühnen, Harald Stachelscheid |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000480 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation
by: Katarzyna A. Ludwik, et al.
Published: (2025-08-01) -
Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening
by: Lin P, et al.
Published: (2025-04-01) -
Diagnostic challenges of Allan-Herndon-Dudley syndrome: a case of hypothyroidism and developmental delay
by: Eun Young Joo, et al.
Published: (2025-02-01) -
Generation of hiPSC lines with fusion tagged thyroid hormone receptor α isoforms to study isoform-specific actions of TRα1 and TRα2
by: Nina Härting, et al.
Published: (2025-08-01) -
hiPSC-derived cardiac fibroblasts dynamically enhance the mechanical function of hiPSC-derived cardiomyocytes on an engineered substrate
by: Mitchell Josvai, et al.
Published: (2025-05-01)