GM29864
Fibroblast from Skin, Thigh
Description:
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4
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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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Thigh
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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, Thigh
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Race
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White
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Subject Type
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family with at least 3 members, including 1 proband, not a trio
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Family Type
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NUCLEAR FAMILIES - ONE AFFECTED
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Norwegian, Slovenian
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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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 |
5.15 |
| Passage Frozen |
2 |
| |
| Gene |
FBXL4 |
| Chromosomal Location |
6q16.1-q16.2 |
| Allelic Variant 1 |
Leu > Pro; MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13 |
| Identified Mutation |
c.1442T>C p.Leu481Pro |
| Remarks |
Unaffected carrier. Affected daughter is GM30056, unaffected son is GM30057, unaffected spouse who is a carrier is GM29865. |
| Cumulative PDL at Freeze |
5.15 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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