GM22060
Fibroblast from Skin, Unspecified
Description:
PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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White
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Ethnicity
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ASHKENAZI
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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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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| PDL at Freeze |
5.31 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; presents with PMD-like symptoms of the Seitelberger type; born after full term pregnancy with no complications to healthy, unrelated Ashkenazi Jewish parents; hypotonia;did not develop motor milestones by age 3-6 months; social milestones were normal (smiling, cooing); at age 6-9 months, subject was negative for all tests for Tay Sachs and other known storage diseases; EEG showed hypsarrhythmia; cisternogram done at age 14 months was negative for obstructive hydrocephalus but showed mildly dilated ventricles; microcephaly; CT scan at age 3 years showed mild dilation of the ventricles and reduction of the volume of the caudate bilaterally; at age 3.5 years suffered a focal onset status epilepticus which was treated with Phenobarbitol; no seizure recurrence; speech delay: non-verbal but able to understand and be receptive of language; severe spasticity developed over time; frequent spasms and clonus of all extremities; impaired vision due to optic disc pallor and light sensitivity, but had normal eye movements; dysphagia; severely underweight; early pubertal development (pubic and axillary hair), but no menstruation; aspiration pneumonia at end of life; died suddenly in her sleep at age 13 years and nine months; gross examination revealed atrophy of cerebral white matter, basal ganglia, brainstem, and cerebellum; histological examination revealed severe central hypomyelination with diffuse fibrillary gliosis, moderate loss of axons, and preservation of neurons; in the cerebellum, Purkinje cells were reduced in number and abnormally positioned and a severe loss of granule cells was found; myelin, not readily detectable by luxol fast blue staining and Proteolipid protein (PLP) immunocytochemistry, was detectable immunocytochemically with antibodies to Myelin Basic Protein (MBP) and Myelin Associated Glycoprotein (MAG); patchy areas of myelin were evident, but not in a perivascular pattern; antibodies to HNK-1 labeled oligodentrocytes in white matter tracts; whole exome sequencing of DNA revealed no pathogenic mutations in PLP1, GJC2, AIMP1, HSPD1, FAM126A, TUBB4A, POLR3A, POLR3B, or ALC16A2; deceased affected brother (GM22090) showed no duplications or mutations of PLP gene and no clinically significant mutations in GJA12 gene; unaffected mother (GM22087); unaffected half-sister (GM22086). |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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