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Paper Details

An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.
Stem Cell Res
0
2021
N, N-glycanase1, NCATS-CL9075, NGLY1, NGLY1 deficiency, NGLY1 gene, R390P, dermal fibroblasts, iPSC, induced pluripotent stem cell (iPSC) line, induced pluripotent stem cell line, p, p.L318P, p.R390P, patient, patients
Author NameAffiliation
Jeanette BeersLung and Blood Institute, National Institutes of Health
Jeanette BeersLung and Blood Institute, National Institutes of Health
Jizhong ZouLung and Blood Institute, National Institutes of Health
Matthew MightUniversity of Alabama at Birmingham
Matthew MightUniversity of Alabama at Birmingham
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Release 1.2