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

Eun Jeong Ko; Sheng Cui; Yoo Jin Shin; Sun Woo Lim; Kang In Lee; Jae Young Lee; Chul Woo Yang; Myungshin Kim; Byung Ha Chung

doi:10.1016/j.scr.2021.102215

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

Eun Jeong Ko, Sheng Cui, Yoo Jin Shin, Sun Woo Lim, Kang In Lee, Jae Young Lee, Chul Woo Yang, Myungshin Kim, Byung Ha Chung

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.

Original language	English
Article number	102215
Journal	Stem Cell Research
Volume	51
DOIs	https://doi.org/10.1016/j.scr.2021.102215
State	Published - Mar 2021

Bibliographical note

Funding Information:
This study was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology, Republic of Korea (NRF-2020R1C1C1008346).

Publisher Copyright:
© 2021

Keywords

Birt-Hogg-Dubé syndrome
FLCN Gene induced pluripotent stem cell

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Ko, E. J., Cui, S., Shin, Y. J., Lim, S. W., Lee, K. I., Lee, J. Y., Yang, C. W., Kim, M., & Chung, B. H. (2021). 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 Research, 51, Article 102215. https://doi.org/10.1016/j.scr.2021.102215

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title = "Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dub{\'e} syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene",

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-Dub{\'e} 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.",

keywords = "Birt-Hogg-Dub{\'e} syndrome, FLCN Gene induced pluripotent stem cell",

author = "Ko, {Eun Jeong} and Sheng Cui and Shin, {Yoo Jin} and Lim, {Sun Woo} and Lee, {Kang In} and Lee, {Jae Young} and Yang, {Chul Woo} and Myungshin Kim and Chung, {Byung Ha}",

note = "Funding Information: This study was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology, Republic of Korea (NRF-2020R1C1C1008346). Publisher Copyright: {\textcopyright} 2021",

year = "2021",

month = mar,

doi = "10.1016/j.scr.2021.102215",

language = "English",

volume = "51",

journal = "Stem Cell Research",

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T1 - 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

AU - Ko, Eun Jeong

AU - Cui, Sheng

AU - Shin, Yoo Jin

AU - Lim, Sun Woo

AU - Lee, Kang In

AU - Lee, Jae Young

AU - Yang, Chul Woo

AU - Kim, Myungshin

AU - Chung, Byung Ha

N1 - Funding Information: This study was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology, Republic of Korea (NRF-2020R1C1C1008346). Publisher Copyright: © 2021

PY - 2021/3

Y1 - 2021/3

N2 - 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.

AB - 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.

KW - Birt-Hogg-Dubé syndrome

KW - FLCN Gene induced pluripotent stem cell

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JO - Stem Cell Research

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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

Abstract

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