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Updated: Feb 11, 2026

Small-scale Propagation of Human iPSCs in Serum-free Conditions for Routine Immunocytochemical Characterization
Published on: February 18, 2017
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
E Richard1, S Brasil1, A Briso-Montiano1
1Centro de Biología Molecular "Severo Ochoa" UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain.
Abstract:
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability.
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