Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2
Forkhead box A2 (FOXA2) is a pioneer transcription factor, necessary for human development. Mutations in FOXA2 were recently associated with congenital hypopituitarism (CH); however, the pathogenic mechanism remains unknown. Induced pluripotent stem cells from a patient with CH carrying a heterozygo...
Saved in:
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125001278 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Forkhead box A2 (FOXA2) is a pioneer transcription factor, necessary for human development. Mutations in FOXA2 were recently associated with congenital hypopituitarism (CH); however, the pathogenic mechanism remains unknown. Induced pluripotent stem cells from a patient with CH carrying a heterozygous FOXA2 variant (c.686C > A; p.S229*) were obtained by cellular reprogramming from the patient’s peripheral blood mononuclear cells. The generated iPSCs exhibited all hallmarks of pluripotency, differentiated into the three germ layers, and presented a normal karyotype. This resource represents a valuable tool for investigating the role of FOXA2 in pituitary development and associated disorders. |
|---|---|
| ISSN: | 1873-5061 |