AG25370
iPSC from Fibroblast
Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 4
PRESENILIN 2; PSEN2
IPSC
Repository
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NIA Aging Cell Culture Repository
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Subcollection |
Alzheimer's Disease |
Protocols |
Protocol PDF |
Biopsy Source
|
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 (Sendai)
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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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GERMAN
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Family Member
|
1
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Family History
|
Y
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Relation to Proband
|
proband
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ISCN
|
46,XX[25].arr(1-22,X)x2
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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 |
15 |
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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. |
|
Remarks |
The donor (Volga German) exhibited progressive dementia. Donor's paternal grandfather, aunt, two cousins and two siblings were affected with Alzheimer disease. The affected sister of this donor is AG09907. A heterozygous substitution (A>T at nucleotide 787) in the AD4 [presenilin 2 (PSEN2)] gene results in an Asn141Ile (N141I) missense mutation. Researchers purchasing hiPSCs from the NIA Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program Proceedings of the National Academy of Sciences of the United States of America120:e2213896120 2023 |
PubMed ID: 36848554 |
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Lavekar SS, Harkin J, Hernandez M, Gomes C, Patil S, Huang KC, Puntambekar SS, Lamb BT, Meyer JS, Development of a three-dimensional organoid model to explore early retinal phenotypes associated with Alzheimer's disease Scientific reports13:13827 2023 |
PubMed ID: 37620502 |
Passage Frozen |
15 |
Split Ratio |
1:8 |
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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