GM24666
iPSC from Fibroblast
Description:
ALZHEIMER DISEASE; AD
NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1
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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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White
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Ethnicity
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Not Hispanic/Latino
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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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N
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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,XY[20]
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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. 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 |
NQO1 |
| Chromosomal Location |
16q22.1 |
| Allelic Variant 1 |
125860.0001; RAPID DEGRADATION OF NQO1 PROTEIN |
| Identified Mutation |
c.559C>T (p.P187S) |
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| Gene |
NQO1 |
| Chromosomal Location |
16q22.1 |
| Allelic Variant 2 |
125860.0001; RAPID DEGRADATION OF NQO1 PROTEIN |
| Identified Mutation |
c.559C>T (p.P187S) |
| Remarks |
Induced pluripotent stem cell; subject affected with sporadic Alzheimer's disease; age last cognitively unimpaired: 77 years (onset at 78 years); history of low blood pressure; hypercholesterolemia, shingles, chest pain; no history of heart attack, cancer, stroke or depression; history of Alzheimer’s onset: changes in short term memory noticed at age of 80 years; functional status at 80 years of age: problems word finding and remembering names, carried out activities independently, worked on the computer, and drove without getting lost; functional status at age 87 years: fully dependent on others, less able to understand spoken words; is less understood and gets upset when others want to help with care tasks (like brushing teeth); gets angry more easily; sleeps long hours despite daytime naps; APOE genotype 3/3 ; test scores at sample collection (age 83 years): cognitive - Blessed IMC 14 of 33 (#errors/33), cognitive - Folstein MMSE 18 of 30 (#correct/30), cognitive - Mattis dementia rating 110 (0-144), functional - A.Q. (IADL) 14 of 30 (higher = more dependent), mood - GDS depression screen 2 (<5 = negative), global - clinical dementia rating of 1 (range 0-3); test scores at age 87 years: cognitive - Blessed IMC 32 of 33 (#errors/33), cognitive - Folstein MMSE 0 of 30 (#correct/30), cognitive - Mattis dementia rating 17 (0-144), functional - A.Q. (IADL) 30 of 30 (higher = more dependent), global - clinical dementia rating of 3 (range 0-3); surgeries include: triple bypass surgery, spinal stenosis surgery; medications include: Namenda, Celexa, Digoxin, Tylenol; Publication: patient sAD2.2 in Nature 482 (7384): 216-220 (PMID 22278060). This iPSC line was submitted by Dr. Lawrence Goldstein (University of California San Diego). GM24666 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.. |
| Shen WB, Logue J, Yang P, Baracco L, Elahi M, Reece EA, Wang B, Li L, Blanchard TG, Han Z, Frieman MB, Rissman RA, Yang P, SARS-CoV-2 invades cognitive centers of the brain and induces Alzheimer's-like neuropathology bioRxiv : the preprint server for biology: 2022 |
| PubMed ID: 35132414 |
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| Arnaud L, Benech P, Greetham L, Stephan D, Jimenez A, Jullien N, García-González L, Tsvetkov PO, Devred F, Sancho-Martinez I, Izpisua Belmonte JC, Baranger K, Rivera S, Nivet E, APOE4 drives inflammation in human astrocytes via TAGLN3 repression and NF-?B activation Cell reports40:111200 2021 |
| PubMed ID: 35977506 |
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| Binder J, Ursu O, Bologa C, Jiang S, Maphis N, Dadras S, Chisholm D, Weick J, Myers O, Kumar P, Yang JJ, Bhaskar K, Oprea TI, Machine learning prediction and tau-based screening identifies potential Alzheimer's disease genes relevant to immunity Communications biology5:125 2020 |
| PubMed ID: 35149761 |
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| Hanna R, Flamier A, Barabino A, Bernier G, G-quadruplexes originating from evolutionary conserved L1 elements interfere with neuronal gene expression in Alzheimer's disease Nature communications12:1828 2019 |
| PubMed ID: 33758195 |
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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 |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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