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AG27221 iPSC from Fibroblast

Description:

HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
LAMIN A/C; LMNA

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
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
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX[23].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks Donor showed classic features of progeria. Donor has a de novo single base substitution, a C>T change at nucleotide 2036 (2036C>T), which results in a silent change at codon 608 [Gly608Gly (G608G)] in exon 11 of the Lamin A gene (LMNA). This substitution creates an exonic consensus splice donor sequence and results in activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids from the protein. This altered LMNA protein was detected on western blots [Eriksson et al., Nature 423:293 (2003)]. Parental fibroblast line is AG01972. 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 parental cell line was recovered, reprogrammed to an induced pluripotent stem cell line, 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.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Donor showed classic features of progeria. Donor has a de novo single base substitution, a C>T change at nucleotide 2036 (2036C>T), which results in a silent change at codon 608 [Gly608Gly (G608G)] in exon 11 of the Lamin A gene (LMNA). This substitution creates an exonic consensus splice donor sequence and results in activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids from the protein. This altered LMNA protein was detected on western blots [Eriksson et al., Nature 423:293 (2003)]. Parental fibroblast line is AG01972. 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.

External Links

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Gene Cards LMNA
Gene Ontology GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005634 nucleus
GO:0005638 lamin filament
GO:0005882 intermediate filament
GO:0007517 muscle development
NCBI Gene Gene ID:4000
NCBI GTR 150330 LAMIN A/C; LMNA
176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
OMIM 150330 LAMIN A/C; LMNA
176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
Omim Description HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
  PROGERIA

Culture Protocols

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Passage Frozen 15
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 Not inactivated
Substrate Gelatin + Feeder Layer
Supplement -
Pricing
Commercial:
$1,131.00USD
Academic &
Non-profit:
$823.00USD
NIA Grantees:
$412.00USD
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How to Order
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Related Products
Same Subject
  • NG01972 - DNA
  • AG01972 - Fibroblast
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