Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders with Trinucleotide Expansions
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Retroviral)
Race Caucasian
Family Member 1
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX.arr[hg19](1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks Induced pluripotent stem cell line derived from GM04281 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008); the HTT gene CAG repeat numbers for this iPSC line can be obtained by email request to nigms@coriell.org after purchase.
Passage Frozen 19
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
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.
 
Gene HD
Chromosomal Location 4p16.3
Allelic Variant 1 143100.0001; HUNTINGTON DISEASE
Identified Mutation (CAG)n EXPANSION; Huntington disease is caused by expansion of a polymorphic trinucleotide repeat (CAG)n located in the coding region of the gene for huntingtin. The range of repeat numbers is 9 to 37 in normal individuals and 37 to 86 in HD patients.
Remark Induced pluripotent stem cell line derived from GM04281 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008); the HTT gene CAG repeat numbers for this iPSC line can be obtained by email request to nigms@coriell.org after purchase.
Cheng PH, Li CL, Chang YF, Tsai SJ, Lai YY, Chan AW, Chen CM, Yang SH., miR-196a Ameliorates Phenotypes of Huntington Disease in Cell, Transgenic Mouse, and Induced Pluripotent Stem Cell Models. Am J Hum Genet.Volume 93, Issue 2:306-312 2013
PubMed ID: 23810380
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008
PubMed ID: 18691744
View karyotype 46,XX
Passage Frozen 19
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
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 10 ng/ml