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AG25370 iPSC from Fibroblast

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 4
PRESENILIN 2; PSEN2
IPSC

Affected:

Yes

Sex:

Female

Age:

81 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Alzheimer's Disease
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Fibroblast
Race White
Ethnicity GERMAN
Family Member 1
Family History Y
Relation to Proband proband
ISCN 46,XX[25].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
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.

Characterizations

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Passage Frozen 15
 
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.
 

Phenotypic Data

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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.

Publications

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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
 
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

External Links

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Gene Cards PSEN2
Gene Ontology GO:0000776 kinetochore
GO:0005639 integral to nuclear inner membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005887 integral to plasma membrane
GO:0007001 chromosome organization and biogenesis (sensu Eukarya)
GO:0007059 chromosome segregation
GO:0007242 intracellular signaling cascade
GO:0008632 apoptotic program
GO:0016021 integral to membrane
NCBI Gene Gene ID:5664
NCBI GTR 600759 PRESENILIN 2; PSEN2
606889 ALZHEIMER DISEASE 4
OMIM 600759 PRESENILIN 2; PSEN2
606889 ALZHEIMER DISEASE 4
Omim Description ALZHEIMER DISEASE, FAMILIAL, TYPE 4; AD4

Culture Protocols

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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
Pricing
Commercial:
$1,131.00USD
Academic &
Non-profit:
$823.00USD
NIA Grantees:
$412.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • NG09908 - DNA
  • AG09908 - Fibroblast
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  • 1138
Miscellaneous
  • DNA on Demand
  • Custom Services

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