Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
5.36 |
| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
46,XY; normal RBC G6PD(B) level, Xg(a) antigen absent; 0.69 units G6PD in fibroblasts; negative for G6PD 563T (Ser188Phe{S188F}) mutation |
| Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB, Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression Genome medicine16:146 2024 |
| PubMed ID: 39696717 |
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| Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A, Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening JCI insight16:146 2020 |
| PubMed ID: 31990683 |
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| Vitrac A, Pons S, Balkota M, Lemière N, Raïs C, Bourgeois JP, Maskos U, Bourgeron T, Cloëz-Tayarani I, A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation Scientific reports10:13315 2020 |
| PubMed ID: 32769989 |
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| Barrault L, Gide J, Qing T, Lesueur L, Tost J, Denis JA, Cailleret M, Aubry L, Peschanski M, Martinat C, Baghdoyan S, Expression of miRNAs from the Imprinted Cells8:13315 2019 |
| PubMed ID: 31779280 |
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| Di Pardo A, Monyror J, Morales LC, Kadam V, Lingrell S, Maglione V, Wozniak RW, Sipione S, Mutant huntingtin interacts with the sterol regulatory element-binding proteins and impairs their nuclear import Human molecular genetics8:13315 2019 |
| PubMed ID: 31875875 |
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| Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A, De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder American journal of human genetics106:438-452 2019 |
| PubMed ID: 32197073 |
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| Kennedy A, Frank RN, Varma SD, Galactitol accumulation by glucose-6-phosphate deficient fibroblasts: a cellular model for resistance to the complications of diabetes mellitus. Life Sci33:1277-83 1983 |
| PubMed ID: 6412013 |
| Passage Frozen |
1 |
| Split Ratio |
1:2 |
| 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 |
| Supplement |
- |
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