GM01653
Fibroblast from Skin, Arm
Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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White
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Family Member
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4
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY.arr(1-22)x2,(XY)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.64 |
| Passage Frozen |
12 |
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| 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 |
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| Remarks |
Skin biopsy (left forearm); father of GM01651A and GM01652B; son of GM01680 and GM01681 |
| Gharaba S, Sprecher U, Baransi A, Muchtar N, Weil M, Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status Neurobiology of disease201:106667 2024 |
| PubMed ID: 39284371 |
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| Edwards N, Combrinck C, McCaughey-Chapman A, Connor B, Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation Frontiers in cellular neuroscience17:1254412 2023 |
| PubMed ID: 37810261 |
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| Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J, Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease The Biochemical journal477:359-380 2019 |
| PubMed ID: 31899485 |
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| 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 Biology19:359-380 2018 |
| PubMed ID: 30567591 |
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| Greco M, Villani G, Mazzucchelli F, Bresolin N, Papa S, Attardi G, Marked aging-related decline in efficiency of oxidative phosphorylation in human skin fibroblasts The FASEB journal : official publication of the Federation of American Societies for Experimental Biology17:1706-8 2003 |
| PubMed ID: 12958183 |
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| Savkur RS, Philips AV, Cooper TA, Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet29(1):40-7 2001 |
| PubMed ID: 11528389 |
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| MacDonald HR, Wevrick R, The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet6:1873-8 1997 |
| PubMed ID: 9302265 |
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| Laderman KA, Penny JR, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G, Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells. J Biol Chem271(27):15891-7 1996 |
| PubMed ID: 8663253 |
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| Hotamisligil GS, Breakefield XO, Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet49:383-92 1991 |
| PubMed ID: 1678250 |
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| Nakamura KD, Turturro A, Hart RW, Elevated c-myc expression in progeria fibroblasts. Biochem Biophys Res Commun155:996-1000 1988 |
| PubMed ID: 3421979 |
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| Nakamura KD, Hart RW, Comparison of proto oncogene expression in seven primate fibroblast cultures. Mech Ageing Dev39:177-87 1987 |
| PubMed ID: 3626640 |
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| Oliver CN, Ahn BW, Moerman EJ, Goldstein S, Stadtman ER, Age-related changes in oxidized proteins. J Biol Chem262:5488-91 1987 |
| PubMed ID: 3571220 |
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| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
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| Case JT, Wallace DC, Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somatic Cell Genet7:103-8 1981 |
| PubMed ID: 6261411 |
| Cumulative PDL at Freeze |
16.7 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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