GM29343
Fibroblast from Skin, Skin
Description:
ATAXIA AND CEREBELLAR HYPOPLASIA
NUCLEOTIDE-BINDING PROTEIN-LIKE PROTEIN; NUBPL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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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, Skin
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Race
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White
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Subject Type
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parent(s) and child(ren)
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Country of Origin
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USA
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Family Member
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4
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Family History
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Y
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Relation to Proband
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mother
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Confirmation
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Molecular characterization before 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 |
5.35 |
| Passage Frozen |
2 |
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| Gene |
NUBPL |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
Substitution; MITOCHONDRIAL COMPLEX I DEFICIENCY |
| Identified Mutation |
c.311T>C; Respiratory complex I (NADH:ubiquinone oxidoreductase; EC 1.6.5.3) is a large mitochondrial inner membrane enzyme consisting of 45 subunits and 8 iron-sulfur (Fe/S) clusters. NUBPL, or IND1, is an Fe/S protein that plays a critical role in the assembly of respiratory complex I, likely by transferring Fe/S into the Fe/S-containing complex I subunits |
| Remarks |
Proband is GM24529 and affected child is GM25329. |
| Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS, Journal of medical genetics58:314-325 2020 |
| PubMed ID: 32518176 |
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| Maclean AE, Kimonis VE, Balk J, Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica Human molecular genetics27:3697-3709 2018 |
| PubMed ID: 29982452 |
| Cumulative PDL at Freeze |
5.35 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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