Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000194 |
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