Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Retroviral)
Ethnicity FINNISH
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Karyotypic analysis and Molecular characterization
ISCN 46,XX.arr[hg19](1-22,X)x2
Species Homo sapiens
Common Name Human
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). 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.
Passage Frozen 19
 
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.
 
Remark 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). 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.
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
 
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
No data is available
Passage Frozen 19
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Knockout DMEM
Serum 20% Knock-out Serum Replacement
Substrate Gelatin + Feeder Layer