Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene.
Mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as one of the causative genes for neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN). Here, we used the Sendai virus delivery system to generate induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with MPAN having a novel heterozygous frameshift mutation caused by an insertion, c.273_274insA (p.P92Tfs*9), in C19orf12. This cellular model could provide a platform for pathophysiological studies of MPAN.
Pubmed ID: 33068888
Research resources used in this publication
None foundAdditional research tools detected in this publication
None foundAntibodies used in this publication
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651002)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651001)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651000)
- 3-Germ Layer Immunocytochemistry Kit (RRID:AB_2651005)
- 3-Germ Layer Immunocytochemistry Kit (RRID:AB_2651004)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2650999)
- 3-Germ Layer Immunocytochemistry Kit (RRID:AB_2651003)
- Mouse IgG3, k Isotype Control, Alexa Fluor 647 Conjugated, Clone J606 (RRID:AB_2034029)
- Mouse Anti-Human Nanog Monoclonal Antibody, PE Conjugated (RRID:AB_1645522)
- Sox2 (RRID:AB_1645334)
- Oct3/4 (RRID:AB_1645331)
- Mouse Anti-Human SSEA-4 Monoclonal Antibody, PE Conjugated (RRID:AB_1645533)
- Mouse Anti-Human TRA-1-81 Antigen Monoclonal Antibody, PE Conjugated (RRID:AB_1645540)
- Mouse Anti-Human TRA-1-60 Antigen Monoclonal Antibody, PE Conjugated (RRID:AB_1645539)
- 3-Germ Layer Immunocytochemistry Kit (RRID:AB_2651012)
- 3-Germ Layer Immunocytochemistry Kit (RRID:AB_2651011)
- 3-Germ Layer Immunocytochemistry Kit (RRID:AB_2651010)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651009)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651008)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651007)
- Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (RRID:AB_2651006)
Associated grants
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This is a list of tools and resources that we have found mentioned in this publication.
Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651002
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651001
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651000
This polyclonal targets
View all literature mentions3-Germ Layer Immunocytochemistry Kit (antibody)
RRID:AB_2651005
This unknown targets
View all literature mentions3-Germ Layer Immunocytochemistry Kit (antibody)
RRID:AB_2651004
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2650999
This unknown targets
View all literature mentions3-Germ Layer Immunocytochemistry Kit (antibody)
RRID:AB_2651003
This unknown targets
View all literature mentionsMouse IgG3, k Isotype Control, Alexa Fluor 647 Conjugated, Clone J606 (antibody)
RRID:AB_2034029
This monoclonal targets Mouse IgG3 k Isotype Control Alexa Fluor 647 Clone J606
View all literature mentionsMouse Anti-Human Nanog Monoclonal Antibody, PE Conjugated (antibody)
RRID:AB_1645522
This monoclonal targets Nanog
View all literature mentionsMouse Anti-Human SSEA-4 Monoclonal Antibody, PE Conjugated (antibody)
RRID:AB_1645533
This monoclonal targets Human SSEA-4
View all literature mentionsMouse Anti-Human TRA-1-81 Antigen Monoclonal Antibody, PE Conjugated (antibody)
RRID:AB_1645540
This monoclonal targets TRA-1-81 Antigen
View all literature mentionsMouse Anti-Human TRA-1-60 Antigen Monoclonal Antibody, PE Conjugated (antibody)
RRID:AB_1645539
This monoclonal targets Human TRA-1-60 Antigen
View all literature mentions3-Germ Layer Immunocytochemistry Kit (antibody)
RRID:AB_2651012
This unknown targets
View all literature mentions3-Germ Layer Immunocytochemistry Kit (antibody)
RRID:AB_2651011
This unknown targets
View all literature mentions3-Germ Layer Immunocytochemistry Kit (antibody)
RRID:AB_2651010
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651009
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651008
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651007
This unknown targets
View all literature mentionsPluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)
RRID:AB_2651006
This unknown targets
View all literature mentions
