GM20415
Fibroblast from Skin, Unspecified
Description:
MOLYBDENUM COFACTOR DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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More than one race
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Ethnicity
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CAUCASIAN/OTHER
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; diagnosed in neonatal period; myoclonic seizures developed at age 3 months; occasional myoclonus; global developmental delays; primitive reflexes including stepping gait and exaggerated startle response; fencing posture; normal eye exam; plagiocephaly; undescended testicle on left; at age 5 1/2 months height was 67 cm (75th percentile), weight was 6.6 kg (15th percentile), head circumference was 40.5 cm (30-40th percentile) which has dropped from 60th percentile; at age 6 months there was head lag and very poor head control, no rolling, no purposeful grabbing movements, no visual focusing on objects, no coordination of visual stimuli with purposeful movements, and no response to sound or light stimuli; reflexes 3+ for all extremities and symmetric at age 6 months; EEG showed generalized spikes but no hypsarrhythmia; no sulfite oxidase activity detectable by enzyme determination; S-sulfocysteine assay showed 1598 micromol/g creatinine (normal <24 micromol/g creatinine); urine oxypurines: creatinine = 2.3 mmol/L, uric = 0.830 mmol/mol Cr (normal range 0.33-2), hypoxanthine = 0.121 mmol/mol Cr (normal range 0.01-0.11), xanthine = 0.951 mmol/mol Cr (normal range 0.01-0.09), oxipurinol = 0.000 mmol/mol Cr (normal range 0-0), and AICAR = 0.000 mmol/mol Cr (normal range 0-0). |
| Grings M, Seminotti B, Karunanidhi A, Ghaloul-Gonzalez L, Mohsen AW, Wipf P, Palmfeldt J, Vockley J, Leipnitz G, ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts Scientific reports9:12651 2018 |
| PubMed ID: 31477743 |
| NCBI GTR |
252150 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA |
| OMIM |
252150 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA |
| Omim Description |
MOCOD |
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MOCS1A, INCLUDED |
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MOCS1B, INCLUDED |
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MOLYBDENUM COFACTOR DEFICIENCY |
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MOLYBDENUM COFACTOR DEFICIENCY, TYPE A |
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MOLYBDENUM COFACTOR DEFICIENCY, TYPE BMOLYBDENUM COFACTOR SYNTHESIS 1, INCLUDED; MOCS1, INCLUDED |
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SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINEDDEFICIENCY OF |
| Passage Frozen |
7 |
| 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 |
10% fetal bovine serum Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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