This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies to investigate disease mechanisms and develop therapeutic strategies.
Abstract
We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line derived from dermal fibroblasts of a patient with Skogholt’s disease, a rare maternally inherited neurodegenerative syndrome associated with choroid plexus dysfunction and impaired cerebrospinal fluid (CSF) homeostasis. Patient fibroblasts were reprogrammed using the non-integrating Repro-OSKGM kit. The resulting iPSC line exhibited typical pluripotent morphology, expressed canonical pluripotency markers, maintained a normal karyotype, retained the disease-associated genetic variant, was mycoplasma-free, and demonstrated trilineage differentiation potential. We also made choroid plexus (ChP) like organoids from the generated iPSCs. This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies.
Nephronophthisis, an autosomal recessive ciliopathy, is a rare genetic kidney disorder characterized by progressive tubulointerstitial fibrosis, corticomedullary cyst formation, and progression to end-stage renal disease. Here, we established a human induced pluripotent stem cell (hiPSC) line from peripheral blood mono...
Jeeyoung Yoon, Y. Shin, Han-Bi Lee et al.· Stem Cell Research· 0 citations
We generated a human induced pluripotent stem cell (hiPSC) clonal line, JHUi010-A, from a 48-year-old female diagnosed with arrhythmogenic cardiomyopathy (ACM) carrying a heterozygous DSG2 c.2358delA variant using Sendai virus vectors expressing the Yamanaka factors. The line exhibits a normal karyotype, expresses stem...
Christianne J. Chua, D. DiSilvestre, Adriana Blazeski et al.· Stem Cell Research· 0 citations
Induced pluripotent stem cell lines derived from two Marfan syndrome patients with mutations in the FBN1 gene exhibited typical iPSC morphology, normal karyotype, undifferentiated states, and trilineage differentiation capacity.
Byron W H Mui, M. Chorsi, Christopher D. Yan et al.· Stem Cell Research· 1 citation
Patients with synchronous multiple primary malignancies often exhibit unique genetic susceptibility. Here, we generated the induced pluripotent stem cell (iPSC) line, SHUTCMi001-A, from a 70-year-old patient with double primary lung squamous cell carcinoma and sigmoid colon adenocarcinoma with wild-type driver genes. T...
Jing-Yi Wei, Guan-Jin Wu, Chen-Bing Sun et al.· Stem Cell Research· 0 citations
We established two fully characterized induced pluripotent stem cell (iPSC) lines from human keratinocytes via Sendai virus-mediated reprogramming. This non-integrating approach maintains genomic integrity, facilitating the generation of pluripotent cell lines with stable self-renewal and multilineage differentiation p...
Denise Sperlich, Katharina Becker, S. Klingenstein et al.· Stem Cell Research· 0 citations
Kabuki syndrome 1 is a rare genetic disorder typically characterized by facial abnormalities, cognitive impairment, developmental delay and organ dysfunction. It is caused by a loss-of-function mutation in the KMT2D gene. The peripheral blood mononuclear cells from a patient carrying frameshift mutation in the KMT2D ge...
