Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene
Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair. Heterozygous mutations in the SMARCA2 gene are the most common cause of NCBRS. Here, we generated an induced pluripotent stem cell li...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002301 |
| _version_ | 1797401786038878208 |
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| author | Xiaomeng Yang Chunmei Yu Min Gao Yi Liu Yuanxiang Liu |
| author_facet | Xiaomeng Yang Chunmei Yu Min Gao Yi Liu Yuanxiang Liu |
| author_sort | Xiaomeng Yang |
| collection | DOAJ |
| description | Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair. Heterozygous mutations in the SMARCA2 gene are the most common cause of NCBRS. Here, we generated an induced pluripotent stem cell line SDQLCHi056-A from a five-year-old girl with NCBRS caused by heterozygous mutation (c.3592 G > A, p.V1198M) in the SMARCA2 gene (OMIM#601358). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro. |
| first_indexed | 2024-03-09T02:15:20Z |
| format | Article |
| id | doaj.art-dfc5d7b306db444fa7ba4eece3efd37c |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-09T02:15:20Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-dfc5d7b306db444fa7ba4eece3efd37c2023-12-07T05:28:20ZengElsevierStem Cell Research1873-50612023-12-0173103244Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 geneXiaomeng Yang0Chunmei Yu1Min Gao2Yi Liu3Yuanxiang Liu4First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China; Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaDepartment of Neurology, Children’s Hospital Affiliated to Shandong University, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China (Yi Liu).First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China (Yi Liu).Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair. Heterozygous mutations in the SMARCA2 gene are the most common cause of NCBRS. Here, we generated an induced pluripotent stem cell line SDQLCHi056-A from a five-year-old girl with NCBRS caused by heterozygous mutation (c.3592 G > A, p.V1198M) in the SMARCA2 gene (OMIM#601358). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506123002301 |
| spellingShingle | Xiaomeng Yang Chunmei Yu Min Gao Yi Liu Yuanxiang Liu Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene Stem Cell Research |
| title | Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene |
| title_full | Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene |
| title_fullStr | Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene |
| title_full_unstemmed | Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene |
| title_short | Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene |
| title_sort | generation of an induced pluripotent stem cell ipsc line sdqlchi056 a from a patient with nicolaides baraitser syndrome carrying a mutation in smarca2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002301 |
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