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Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene.

Stem cell research - 1 Jun 2024

Wu Fan, Ji Xinna, Gao Yanyan, Liu Wanting, Lu Yuanfang, Yang Aiyun, Wang Jianhua, Chen Qian, Zhang Xue

Abstract excerpt

The NF1 gene is related to neurofibromatosis type 1 (NF1), which is an autosomal dominant disorder associated with multisystem involvement and epilepsy susceptibility. A human induced pluripotent stem cell (iPSC) line was derived from a pediatric patient with NF1 and epilepsy, harboring a heterozygous NF1 gene mutation. The iPSC line exhibits high levels of pluripotency markers, maintains the NF1 gene mutation,...

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Identifiers

PMID: 38761686
DOI: 10.1016/j.scr.2024.103444

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene.PMID 38761686Read ↗

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