Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
parent
|
Confirmation
|
Karyotypic analysis and Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.17 |
Passage Frozen |
8 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Remarks |
46,XX; mother of Down's child; skin biopsy; wife of GM00024A; 10% of cells show random chromosome loss |
Huang B, Seefelder M, Buck E, Engler T, Lindenberg KS, Klein F, Landwehrmeyer GB, Kochanek S, HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease Neurobiology of disease:105476 2021 |
PubMed ID: 34390835 |
|
Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006 |
PubMed ID: 16476778 |
|
Abdullah, K.M., Abdullah, A., Johnson, M.L., Bilski, J.J., Petry, K., Redmer, D.A., Reynolds, L.P., and Grazul-Bilska, A.T., Effects of Aloe vera on Gap Junctional Intercellular Communication and Proliferation of Human Diabetic and Nondiabetic Skin Fibroblasts J Alternative and Complementary Med9(5):711-718 2003 |
PubMed ID: 14629848 |
|
Haylett AK, Ward TH, Moore JV, DNA damage and repair in Gorlin syndrome and normal fibroblasts after aminolevulinic acid photodynamic therapy: a comet assay study. Photochem Photobiol78(4):337-41 2003 |
PubMed ID: 14626660 |
|
Broker BJ, Chakrabarti R, Blynman T, Roesler J, Wang MB, Srivatsan ES, Comparison of growth factor expression in fetal and adult fibroblasts: a preliminary report. Arch Otolaryngol Head Neck Surg125:676-80 1999 |
PubMed ID: 10367926 |
|
Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G, The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet8:425-30 1999 |
PubMed ID: 9949201 |
|
Wrathall, Reduced neuronotrophic activity of fibroblasts from individuals with Dysautonomia. J Cell Biol97:243a (1983):425-30 1983 |
PubMed ID: 9949201 |
|
Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982 |
PubMed ID: 7062933 |
|
Rainbow AJ, Reduced capacity to repair irradiated adenovirus in fibroblasts from xeroderma pigmentosum heterozygotes. Cancer Res40:3945-9 1980 |
PubMed ID: 7471045 |
Cumulative PDL at Freeze |
6.17 |
Passage Frozen |
8 |
Split Ratio |
1:4 |
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 |
Supplement |
- |
|
|