Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

Do Hyun Na; Sun Woo Lim; Bo Mi Kim; Kyoung Woon Kim; Yoo Jin Shin; Hyojin Chae; Eun Jeong Ko; Chul Woo Yang; Myungshin Kim; Byung Ha Chung

doi:10.1016/j.scr.2020.101876

Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

Do Hyun Na, Sun Woo Lim, Bo Mi Kim, Kyoung Woon Kim, Yoo Jin Shin, Hyojin Chae, Eun Jeong Ko, Chul Woo Yang, Myungshin Kim, Byung Ha Chung

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Abstract

The human-induced pluripotent stem cell (KIN-hiPSCs) line (CMCi001-A), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman with karyomegalic interstitial nephritis (KIN) caused by the mutation of FANCD2/FANCI-Associated Nuclease 1 (FAN1) gene, was generated using Sendai virus. KIN-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 PBMCs of the patient and KIN-hiPSCs showed 47, XXX. In summary, we generated a novel patient-specific hiPSC line containing the mutation of FAN1 gene and it can be used to provide additional insights for KIN pathophysiology.

Original language	English
Article number	101876
Journal	Stem Cell Research
Volume	46
DOIs	https://doi.org/10.1016/j.scr.2020.101876
State	Published - Jul 2020

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Publisher Copyright:
© 2020 The Author(s)

Keywords

FAN1 gene
Induced pluripotent stem cell
Karyomegalic interstitial nephritis

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Na, D. H., Lim, S. W., Kim, B. M., Kim, K. W., Shin, Y. J., Chae, H., Ko, E. J., Yang, C. W., Kim, M., & Chung, B. H. (2020). Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene. Stem Cell Research, 46, Article 101876. https://doi.org/10.1016/j.scr.2020.101876

@article{649ed102c63343f68b6f9a4b7943c142,

title = "Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene",

abstract = "The human-induced pluripotent stem cell (KIN-hiPSCs) line (CMCi001-A), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman with karyomegalic interstitial nephritis (KIN) caused by the mutation of FANCD2/FANCI-Associated Nuclease 1 (FAN1) gene, was generated using Sendai virus. KIN-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 PBMCs of the patient and KIN-hiPSCs showed 47, XXX. In summary, we generated a novel patient-specific hiPSC line containing the mutation of FAN1 gene and it can be used to provide additional insights for KIN pathophysiology.",

keywords = "FAN1 gene, Induced pluripotent stem cell, Karyomegalic interstitial nephritis",

author = "Na, {Do Hyun} and Lim, {Sun Woo} and Kim, {Bo Mi} and Kim, {Kyoung Woon} and Shin, {Yoo Jin} and Hyojin Chae and Ko, {Eun Jeong} and Yang, {Chul Woo} and Myungshin Kim and Chung, {Byung Ha}",

note = "Publisher Copyright: {\textcopyright} 2020 The Author(s)",

year = "2020",

month = jul,

doi = "10.1016/j.scr.2020.101876",

language = "English",

volume = "46",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier B.V.",

}

Na, DH, Lim, SW, Kim, BM, Kim, KW, Shin, YJ, Chae, H, Ko, EJ, Yang, CW, Kim, M & Chung, BH 2020, 'Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene', Stem Cell Research, vol. 46, 101876. https://doi.org/10.1016/j.scr.2020.101876

Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene. / Na, Do Hyun; Lim, Sun Woo; Kim, Bo Mi et al.
In: Stem Cell Research, Vol. 46, 101876, 07.2020.

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

TY - JOUR

T1 - Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

AU - Na, Do Hyun

AU - Lim, Sun Woo

AU - Kim, Bo Mi

AU - Kim, Kyoung Woon

AU - Shin, Yoo Jin

AU - Chae, Hyojin

AU - Ko, Eun Jeong

AU - Yang, Chul Woo

AU - Kim, Myungshin

AU - Chung, Byung Ha

PY - 2020/7

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AB - The human-induced pluripotent stem cell (KIN-hiPSCs) line (CMCi001-A), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman with karyomegalic interstitial nephritis (KIN) caused by the mutation of FANCD2/FANCI-Associated Nuclease 1 (FAN1) gene, was generated using Sendai virus. KIN-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 PBMCs of the patient and KIN-hiPSCs showed 47, XXX. In summary, we generated a novel patient-specific hiPSC line containing the mutation of FAN1 gene and it can be used to provide additional insights for KIN pathophysiology.

KW - FAN1 gene

KW - Induced pluripotent stem cell

KW - Karyomegalic interstitial nephritis

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SN - 1873-5061

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JO - Stem Cell Research

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Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene

Abstract

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Keywords

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