Biblio
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient. Stem Cell Res. 2018;33:180-184.
. Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B. Stem Cell Res. 2018;32:110-114.
. Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations. Stem Cell Res. 2019;36:101389.
. Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene. Stem Cell Res. 2021;52:102208.
. Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro. Stem Cell Res. 2020;43:101714.
. Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln. Stem Cell Res. 2020;47:101895.
Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene. Stem Cell Res. 2021;59:102648.
Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants. Stem Cell Res. 2022;61:102774.
. Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants. Stem Cell Res. 2022;66:103003.
. Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12. Stem Cell Res. 2023;71:103183.
Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2. Stem Cell Res. 2021;53:102290.
Generation of two iPSC lines (ICGi008-A and ICGi008-B) from skin fibroblasts of a patient with early-onset Alzheimer's disease caused by London familial APP mutation (V717I). Stem Cell Res. 2019;36:101415.
. Generation of two iPSC lines, (ICGi015-A and ICGi015-B), by reprogramming peripheral blood mononuclear cells from a patient with Parkinson's disease. Stem Cell Res. 2019;41:101652.
. Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22. Stem Cell Res. 2018;31:244-248.
Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23). Stem Cell Res. 2020;49:102098.
. Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer's disease-associated variant in SORL1. Stem Cell Res. 2022;62:102823.
. Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene. Stem Cell Res. 2018;34:101368.
. Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA. Stem Cell Res. 2018;30:201-205.
. Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. Stem Cell Res. 2021;53:102273.
. Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene. Stem Cell Res. 2021;55:102482.
. Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene. Stem Cell Res. 2022;63:102830.
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene. Stem Cell Res. 2018;33:175-179.
. Generation of two isogenic iPSC lines from a healthy male donor of European ancestry. Stem Cell Res. 2024;77:103403.
. Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene. Stem Cell Res. 2019;35:101403.
. Generation of two isogenic knockout PKD2 iPS cell lines, IRFMNi003-A-1 and IRFMNi003-A-2, using CRISPR/Cas9 technology. Stem Cell Res. 2019;42:101667.
.