GM24675
iPSC from Fibroblast
Description:
ALZHEIMER DISEASE; AD
AMYLOID BETA A4 PRECURSOR PROTEIN; APP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Retroviral)
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Sample Source
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iPSC from Fibroblast
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Race
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Not Reported
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Ethnicity
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FINNISH
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Molecular characterization
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ISCN
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46,XX[24].arr 21q21.3(27,061,345-
27,824,478)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
26 |
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and PluriTest. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| Gene |
APP |
| Chromosomal Location |
21q21.3 |
| Allelic Variant 1 |
; ALZHEIMER DISEASE, FAMILIAL |
| Identified Mutation |
Duplication |
| Remarks |
Induced pluripotent stem cell; subject affected with familial Alzheimer's disease; onset at 53 years of age; amyloid beta precursor protein (APP) gene duplication; Folstein Mini Mental State Exam score: 17 (#correct out of 30) at time of sample collection; APOE genotype 3/3; Publication: patient APP2.3 in Nature 482 (7384): 216-220 (PMID 22278060). This iPSC line was submitted by Dr. Lawrence Goldstein (University of California San Diego). GM24675 is a noted slow grower. Please refer to the CofA for specific culture instructions in addition to the Protocol. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| Janczura KJ, Volmar CH, Sartor GC, Rao SJ, Ricciardi NR, Lambert G, Brothers SP, Wahlestedt C, Inhibition of HDAC3 reverses Alzheimer's disease-related pathologies in vitro and in the 3xTg-AD mouse model Proceedings of the National Academy of Sciences of the United States of America115:E11148-E11157 2018 |
| PubMed ID: 30397132 |
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| Israel MA, Yuan SH, Bardy C, Reyna SM, Mu Y, Herrera C, Hefferan MP, Van Gorp S, Nazor KL, Boscolo FS, Carson CT, Laurent LC, Marsala M, Gage FH, Remes AM, Koo EH, Goldstein LS, Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells Nature482:216-20 2011 |
| PubMed ID: 22278060 |
| Passage Frozen |
26 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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