Abstract：
:X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene. A human-induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts using the integrating free Sendai virus technique. The generated iPSC line SHCDNRi001-A offers an efficient resource to research pathogenic mechanisms in XLAS, as well as a cell-based disease model for drug testing or other treatments.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Sun L,Zhang J,Kuang XY,Kang YL,Wu Y,Huang WYdoi
10.1016/j.scr.2020.101833subject
Has Abstractpub_date
2020-05-01 00:00:00pages
101833eissn
1873-5061issn
1876-7753pii
S1873-5061(20)30134-3journal_volume
45pub_type
杂志文章abstract：:Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood of RSTS1 patients with un...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101553
更新日期：2019-10-01 00:00:00
abstract：:Generating human podocytes in vitro could offer a unique opportunity to study human diseases. Here, we describe a simple and efficient protocol for obtaining functional podocytes in vitro from human induced pluripotent stem cells. Cells were exposed to a three-step protocol, which induced their differentiation into in...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.06.001
更新日期：2016-07-01 00:00:00
abstract：:Myeloid ecotropic viral integration site 1 (MEIS1) plays an essential role in the development of several embryonic organs, such as the central nervous system and eyes. To further investigate the role of MEIS1 in embryonic development, herein, we generated a MEIS1 homozygous knockout human embryonic stem cell (hESC) li...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102069
更新日期：2020-12-01 00:00:00
abstract：:There are currently no reports of identification of stem cells in human gallbladder. The differences between human gallbladder and intrahepatic bile duct (IHBD) cells have also not been explored. The goals of this study were to evaluate if human fetal gallbladder contains a candidate stem cell population and if fetal ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.12.003
更新日期：2015-05-01 00:00:00
abstract：:Optimization of pluripotent stem cell expansion and differentiation is facilitated by biological tools that permit non-invasive and dynamic monitoring of pluripotency, and the ability to select for an undifferentiated input cell population. Here we report on the generation and characterisation of clonal human embryoni...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2014.05.006
更新日期：2014-09-01 00:00:00
abstract：:The Genea016 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, through ICM outgrowth on inactivated human feeders. The line showed pluripotent cell morphology and genomic analysis verified a 46, XX karyotype and female Allele pattern through traditional karyotyping...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.11.009
更新日期：2016-01-01 00:00:00
abstract：:Heredity is the major factor contributing to the susceptibility to ankylosing spondylitis(AS). Janus kinase 2 (JAK2) has been associated with AS. Urine-derived cells from an AS patient with JAK2 mutation were used to generate induced pluripotent stem cells (iPSCs) with five episomal iPSC reprogramming vectors (pCXLE-h...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101788
更新日期：2020-05-01 00:00:00
abstract：:Haploidentical hematopoietic stem-cell transplantation (haplo-HSCT) is associated with an increased risk of graft failure and severe graft-versus-host disease (GVHD). Mesenchymal stromal cells (MSCs) have been shown to support in vivo normal hematopoiesis and to display potent immunesuppressive effects. We cotransplan...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2013.10.001
更新日期：2014-01-01 00:00:00
abstract：:Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, was generated from p...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101907
更新日期：2020-07-05 00:00:00
abstract：:Stem cells can differentiate into various body tissues and organs and thus are considered as promising tools for cell therapy and tissue engineering. Early passage stem cells have high differentiation ability compared to late passage stem cells. Thus, it is important to use early passage stem cells in cell therapy. He...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101475
更新日期：2019-07-01 00:00:00
abstract：:Human embryonic stem cells (hESCs) can undergo unlimited self-renewal and differentiate into hepatic cells, including expandable hepato-blasts (HBs) and hepatocyte-like cells (HLCs) in vitro. Therefore, hESC-derived HBs have the potential to become a renewable cell source for cell therapy of serious liver damage. Howe...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102010
更新日期：2020-12-01 00:00:00
abstract：:Pluripotency is a cellular state of multiple options. Here, we highlight the potential for self-organization to contribute to stem cell fate computation. A new way of considering regulatory circuitry is presented that describes the expression of each transcription factor (TF) as a branching process that propagates thr...
journal_title：Stem cell research
pub_type： 杂志文章,评审
doi：10.1016/j.scr.2011.11.001
更新日期：2012-03-01 00:00:00
abstract：:Interactions between acute myeloid leukemia (AML) blasts and neighboring stromal cells are important for disease development and chemosensitivity. However, the molecular mechanisms involved in the cytokine-mediated crosstalk between mesenchymal stem cells (MSCs) and AML cells are largely unknown. Leukemic cells derive...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2015.09.008
更新日期：2015-11-01 00:00:00
abstract：:Cartilage defects have limited capacity for repair and are often replaced by fibrocartilage with inferior mechanical properties. To overcome the limitations of artificial joint replacement, high-throughput screens (HTS) could be developed to identify molecules that stimulate differentiation and/or proliferation of art...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2010.08.007
更新日期：2011-01-01 00:00:00
abstract：:This study elucidated the stage-specific roles of FGF2 signaling during neural development using in-vitro human embryonic stem cell-based developmental modeling. We found that the dysregulation of FGF2 signaling prior to the onset of neural induction resulted in the malformation of neural rosettes (a neural tube-like ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.08.012
更新日期：2016-09-01 00:00:00
abstract：:Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis. For the first time, we generated a human induced pluripotent stem cell (hiPSC) line SHAMUi001-A from the bone marrow hematopoietic progenitor cells of a THC...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102002
更新日期：2020-10-01 00:00:00
abstract：:In this study, we established induced pluripotent stem (iPS) cell lines from postmortem dura-derived fibroblasts of four control individuals with low polygenic risk score for psychiatric disorders including schizophrenia and bipolar disorder. The fibroblasts were reprogrammed into iPS cells using episomal vectors carr...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101806
更新日期：2020-07-01 00:00:00
abstract：:Novel and complementary experimental models are required for investigating the molecular mechanisms underlying the resistance to the available therapies of patients with major depression (Treatment-Resistant Depression, TRD) that occurs in at least one third of patients and need to be deeply investigated. Here, we hav...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102104
更新日期：2020-12-01 00:00:00
abstract：:Little is known about the functions of downstream regulatory element antagonist modulator (DREAM) in embryonic stem cells (ESCs). However, DREAM interacts with cAMP response element-binding protein (CREB) in a Ca(2+)-dependent manner, preventing CREB binding protein (CBP) recruitment. Furthermore, CREB and CBP are inv...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.03.001
更新日期：2016-05-01 00:00:00
abstract：:Incomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related wit...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101569
更新日期：2019-10-01 00:00:00
abstract：:The human transcription factor NKX2-5 plays an important role in cardiac formation and development, and thus it can be used for isolation of cardiomyocytes (CMs) differentiated from human pluripotent stem cells (hPSCs). Here, we knocked-in enhanced GFP (eGFP) and Pac (a puromycin resistant gene; PuroR) into the exon 1...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102120
更新日期：2020-12-10 00:00:00
abstract：:Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by t...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.09.011
更新日期：2016-09-01 00:00:00
abstract：:Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B. It is one of the most prominent SCA-subtype in Indian population and till date no patient specific models have been described. Human-induced-pluripotent-stem cell (HiPSC) based disease m...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2018.08.008
更新日期：2018-08-01 00:00:00
abstract：:OCT4 and NANOG are core transcription factor genes in self-renewal, differentiation, and reprogramming. Here, we generated an OCT4-EGFP, NANOG-tdTomato dual reporter hiPSC line, KKUi001-A, on the basis of human induced pluripotent stem cells using CRISPR/Cas9 technology. EGFP and tdTomato reporter were inserted into b...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101943
更新日期：2020-10-01 00:00:00
abstract：:Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient derm...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.101947
更新日期：2020-10-01 00:00:00
abstract：:Human lymphoblast cells from a female and male patient diagnosed with Alzheimer's disease (AD) with different genotypes of a functional copy number variation (CNV) in the AD risk gene CR1 were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NA...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2016.10.003
更新日期：2016-11-01 00:00:00
abstract：:Measurement of Alkaline Phosphatase (ALP) level is a widely used procedure in clinical and basic research. We present a simple and inexpensive luminescence-based method that allows multiplexed measurement and normalization of intracellular ALP levels in one sample well. The method comprises two commercially available ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2017.07.014
更新日期：2017-08-01 00:00:00
abstract：:Constant neuroregeneration in adult olfactory epithelium maintains olfactory function by basal stem cell proliferation and differentiation to replace lost olfactory sensory neurons (OSNs). Understanding the mechanisms regulating this process could reveal potential therapeutic targets for stimulating adult olfactory ne...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2020.102061
更新日期：2020-12-01 00:00:00
abstract：:Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 5-day-old boy with MSUD Ib ...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2019.101579
更新日期：2019-10-01 00:00:00
abstract：:Mesenchymal stromal cells (MSCs) suppress T cell responses through mechanisms not completely understood. Adenosine is a strong immunosuppressant that acts mainly through its receptor A(2a) (ADORA2A). Extracellular adenosine levels are a net result of its production (mediated by CD39 and CD73), and of its conversion in...
journal_title：Stem cell research
pub_type： 杂志文章
doi：10.1016/j.scr.2011.04.001
更新日期：2011-07-01 00:00:00
