GM22060 PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22060 PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN Skin, Unspecified Cell Line
Pelizaeus-merzbacher 样疾病，类型未知细胞株
Description描述：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).
Category分类：Fibroblast
ID编号:NTCC®-GM22060
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:13 YR
Gender性别:Female
Cell Type细胞类型: PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:ASHKENAZI
Family:2768
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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