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...
| Հիմնական հեղինակներ: | , , , , , |
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| Ձևաչափ: | Հոդված |
| Լեզու: | English |
| Հրապարակվել է: |
Elsevier
2022-10-01
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| Շարք: | Stem Cell Research |
| Առցանց հասանելիություն: | http://www.sciencedirect.com/science/article/pii/S1873506122002835 |