Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A
SCN8A is linked to early infantile epileptic encephalopathy type 13 (EIEE13). We generate a human induced pluripotent stem cell (iPSC) line from a child diagnosed with EIEE, caused by SCN8A variation. The iPSC line expresses high pluripotency markers, retains SCN8A variation and is able to different...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122002112 |