Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13

Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes in an imprinted region of chromosome 15q11.2–q13. We generated a human-induced pluripotent stem cell line, designated KSCBi009-A, from peripheral blood mononuclear cells of a 13-year-old mal...

Full description

Bibliographic Details
Main Authors: Bo-Young Kim, Jin-Sung Lee, Yong-Ou Kim, Soo Kyung Koo, Mi-Hyun Park
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120301483
id doaj-eaf42acf6655477e9e23eac67ea69d57
record_format Article
spelling doaj-eaf42acf6655477e9e23eac67ea69d572020-11-25T02:38:10ZengElsevierStem Cell Research1873-50612020-07-0146101847Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13Bo-Young Kim0Jin-Sung Lee1Yong-Ou Kim2Soo Kyung Koo3Mi-Hyun Park4Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention, Cheongju-si, South KoreaDivision of Clinical Genetics, Department of Pediatrics, Severance Children’s Hospital, Yonsei University College of Medicine, South KoreaDivision of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention, Cheongju-si, South KoreaDivision of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention, Cheongju-si, South Korea; Corresponding authors.Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Center for Biomedical Sciences, Korea National Institute of Health, Korea Centers for Disease Control and Prevention, Cheongju-si, South Korea; Corresponding authors.Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes in an imprinted region of chromosome 15q11.2–q13. We generated a human-induced pluripotent stem cell line, designated KSCBi009-A, from peripheral blood mononuclear cells of a 13-year-old male PWS patient exhibiting deletion of the paternal chromosome 15q11.2–q13 region. The deletion was confirmed via methylation-specific multiplex ligation probe amplification assay (MS-MLPA) of genomic DNA. The hiPSC line expressed pluripotency markers and differentiated into three germ layers. The cell line may serve as a valuable model of an imprinting PWS disorder useful in terms of drug discovery and development.http://www.sciencedirect.com/science/article/pii/S1873506120301483
collection DOAJ
language English
format Article
sources DOAJ
author Bo-Young Kim
Jin-Sung Lee
Yong-Ou Kim
Soo Kyung Koo
Mi-Hyun Park
spellingShingle Bo-Young Kim
Jin-Sung Lee
Yong-Ou Kim
Soo Kyung Koo
Mi-Hyun Park
Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13
Stem Cell Research
author_facet Bo-Young Kim
Jin-Sung Lee
Yong-Ou Kim
Soo Kyung Koo
Mi-Hyun Park
author_sort Bo-Young Kim
title Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13
title_short Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13
title_full Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13
title_fullStr Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13
title_full_unstemmed Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader–Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2–q13
title_sort generation of induced pluripotent stem cells (kscbi009-a) from a patient with prader–willi syndrome (pws) featuring deletion of the paternal chromosome region 15q11.2–q13
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-07-01
description Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by the loss of paternally expressed genes in an imprinted region of chromosome 15q11.2–q13. We generated a human-induced pluripotent stem cell line, designated KSCBi009-A, from peripheral blood mononuclear cells of a 13-year-old male PWS patient exhibiting deletion of the paternal chromosome 15q11.2–q13 region. The deletion was confirmed via methylation-specific multiplex ligation probe amplification assay (MS-MLPA) of genomic DNA. The hiPSC line expressed pluripotency markers and differentiated into three germ layers. The cell line may serve as a valuable model of an imprinting PWS disorder useful in terms of drug discovery and development.
url http://www.sciencedirect.com/science/article/pii/S1873506120301483
work_keys_str_mv AT boyoungkim generationofinducedpluripotentstemcellskscbi009afromapatientwithpraderwillisyndromepwsfeaturingdeletionofthepaternalchromosomeregion15q112q13
AT jinsunglee generationofinducedpluripotentstemcellskscbi009afromapatientwithpraderwillisyndromepwsfeaturingdeletionofthepaternalchromosomeregion15q112q13
AT yongoukim generationofinducedpluripotentstemcellskscbi009afromapatientwithpraderwillisyndromepwsfeaturingdeletionofthepaternalchromosomeregion15q112q13
AT sookyungkoo generationofinducedpluripotentstemcellskscbi009afromapatientwithpraderwillisyndromepwsfeaturingdeletionofthepaternalchromosomeregion15q112q13
AT mihyunpark generationofinducedpluripotentstemcellskscbi009afromapatientwithpraderwillisyndromepwsfeaturingdeletionofthepaternalchromosomeregion15q112q13
_version_ 1724792430423703552

Similar Items