Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease
Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs) line carrying compound GAA mutations (R608X and...
المؤلفون الرئيسيون: | Wenjun Huang, Yafei Zhou, Jie Wang, Congshan Jiang, Yanmin Zhang, Rui Zhou |
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التنسيق: | مقال |
اللغة: | English |
منشور في: |
Elsevier
2022-10-01
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سلاسل: | Stem Cell Research |
الوصول للمادة أونلاين: | http://www.sciencedirect.com/science/article/pii/S1873506122002835 |
مواد مشابهة
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Generation of one human induced pluripotent stem cell line (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial fibrillation patient
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Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation
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Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2
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Induced pluripotent stem cell for modeling Pompe disease
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