Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Apparently Healthy Collection |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
45,X[4]/47,XY,+10[3]/46,XY[43]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
13 |
|
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 |
|
Remarks |
See GM01056B Lymphoid; 46,XY; 3% of cells show random chromosome loss and 2% show random gain |
Kuo SH, Tasset I, Cheng MM, Diaz A, Pan MK, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximénez-Embún P, Fan L, Kim D, Ko HS, Yacoubian T, Kanter E, Liu L, Tang G, Muñoz J, Sardi SP, Li A, Gan L, Cuervo AM, Sulzer D, Mutant glucocerebrosidase impairs a-synuclein degradation by blockade of chaperone-mediated autophagy Science advances8:eabm6393 2022 |
PubMed ID: 35138901 |
|
Zhu B, Fisher E, Li L, Zhong P, Yan Z, Feng J, PTBP2 attenuation facilitates fibroblast to neuron conversion by promoting alternative splicing of neuronal genes Stem cell reports18:2268-2282 2022 |
PubMed ID: 37832540 |
|
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW, Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome eLife9:2268-2282 2019 |
PubMed ID: 32896271 |
|
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 Biology19:2268-2282 2018 |
PubMed ID: 30567591 |
|
Russanova VR, Hirai TH, Howard BH, Semirandom sampling to detect differentiation-related and age-related epigenome remodeling The journals of gerontology Series A, Biological sciences and medical sciences59:1221-33 2005 |
PubMed ID: 15699521 |
|
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 |
|
Zhang J, Asin-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, Passarino G, De Benedictis G, Franceschi C, Attardi G, Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A100(3):1116-21 2003 |
PubMed ID: 12538859 |
|
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 |
Passage Frozen |
13 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
- |
|
|