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AG07493 Fibroblast from Skin, Arm

Description:

HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Donor diagnosed as having atypical progeria with features including alopecia, facial disproportion, small mandible, below 3% of normal height and weight, 3 times the normal level of hyaluronic acid, and circumoral blueness. The skin biopsy was taken ante-mortem from the upper left arm. The culture was initiated on 4/17/84 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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PDL at Freeze 14
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 

Phenotypic Data

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Remarks Donor diagnosed as having atypical progeria with features including alopecia, facial disproportion, small mandible, below 3% of normal height and weight, 3 times the normal level of hyaluronic acid, and circumoral blueness. The skin biopsy was taken ante-mortem from the upper left arm. The culture was initiated on 4/17/84 using explants of minced skin tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Fafián-Labora JA, Rodríguez-Navarro JA, O'Loghlen A, Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage Cell metabolism: 2020
PubMed ID: 32574561
 
Tresini M, Lorenzini A, Torres C, Cristofalo VJ, Modulation of replicative senescence of diploid human cells by nuclear ERK signaling J Biol Chem282(6):4136-51 2007
PubMed ID: 17145763
 
Ouellette MM, McDaniel LD, Wright WE, Shay JW, Schultz RA, The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes. Hum Mol Genet9(3):403-11 2000
PubMed ID: 10655550
 
Giro M, Davidson JM, Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria. Mech Ageing Dev70:163-36 1993
PubMed ID: 8246632

External Links

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dbSNP dbSNP ID: 13817
NCBI GTR 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
OMIM 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
Omim Description HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
  PROGERIA

Culture Protocols

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Cumulative PDL at Freeze 14
Passage Frozen 6
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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