Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene.
Stem Cell Res
; 51: 102215, 2021 03.
Article
in En
| MEDLINE
| ID: mdl-33540282
ABSTRACT
The human-induced pluripotent stem cell lines (hiPSCs) (CMCi009), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman who were diagnosed as Birt-Hogg-Dubé syndrome (BHD) caused by the frameshift deletion mutation c.1285delC in FCLN gene, was generated using synthetic mRNA. Generated hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, and directly differentiated into all three germ layers. Karyotyping of generated iPSCs showed normal 46, XY (CMCi009-A) respectively. In summary, we generated a novel patient-specific hiPSCs line containing the same mutation of FLCN gene and it can be used to provide additional insights for BHD pathophysiology.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Induced Pluripotent Stem Cells
/
Birt-Hogg-Dube Syndrome
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2021
Document type:
Article