Name：NTCC? NA22060 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA22060
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 13 YR
Gender性別: Female
Description描述: PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN
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).
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene:
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Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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