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GM00409 Fibroblast from Skin, Unspecified

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

7 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks 46,XY; skin biopsy; 4% of cells show random chromosome gain - 47,XY,+7; passage 10 at CCR

Characterizations

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PDL at Freeze 5.3
Passage Frozen 3
 
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 46,XY; skin biopsy; 4% of cells show random chromosome gain - 47,XY,+7; passage 10 at CCR

Publications

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Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2022
PubMed ID: 36899894
 
Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G, A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease Scientific reports12:4091 2021
PubMed ID: 35260714
 
Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:4091 2018
PubMed ID: 30567591
 
Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER, Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR Neuromuscular disorders : NMD27:439-446 2016
PubMed ID: 28284873
 
Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME, SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Molecular genetics & genomic medicine3:248-57 2015
PubMed ID: 26247043
 
Wood PL, Smith T, Pelzer L, Goodenowe DB, Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction Lipids in health and disease10:102 2011
PubMed ID: 21682894
 
Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996
PubMed ID: 8643543
 
Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996
PubMed ID: 8630978
 
Hotamisligil GS, Breakefield XO, Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet49:383-92 1991
PubMed ID: 1678250
 
Butler JD, Key JD, Hughes BF, Tietze F, Raiford DS, Reed GF, Brannon PM, Spielberg SP, Schulman JD, Glutathione metabolism in normal and cystinotic fibroblasts. Exp Cell Res172:158-67 1987
PubMed ID: 2888673
 
Davis MH, Pato CN, Grinvalsky H, Gruenstein E, Identification of a biochemical difference between male and female human fibroblasts: implications for the expression of Duchenne muscular dystrophy. Neurology32:951-7 1982
PubMed ID: 7202167
 
Barrett SF, Tarone RE, Moshell AN, Ganges MB, Robbins JH, The post-UV colony-forming ability of normal fibroblast strains and of the xeroderma pigmentosum group G strain. J Invest Dermatol76:59-62 1981
PubMed ID: 7462668
 
Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981
PubMed ID: 6170925
 
Kurz JB, Perkins JP, Buchwald M, Killing of fibroblasts by dexamethasone or dibutyryl adenosine 3',5'- monophosphate is not a valid test for cystic fibrosis. Science206:1317-9 1979
PubMed ID: 229552
 
Maroun LE, Interferon effect on ribosomal ribonucleic acid related to chromosome 21 ploidy. Biochem J179:221-5 1979
PubMed ID: 475756

External Links

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dbSNP dbSNP ID: 15781
GEO GEO Accession No: GSM1464226
GEO Accession No: GSM1464227

Culture Protocols

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Passage Frozen 3
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate Commercially-treated plastic
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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