GM22090 PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22090 PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN B-Lymphocyte Cell Line
Pelizaeus-merzbacher 样疾病，类型未知细胞株
Description描述：Clinically affected; presents with PMD-like symptoms; born after full term pregnancy with no complications to healthy, unrelated Ashkenazi Jewish parents; was irritable and "colicky" as an infant; never developed normal sleep patterns; did not develop motor milestones by age 3 months; subject was negative for storage and metabolic abnormalities; speech delay: non-verbal but able to understand and be receptive of language; severe visual impairment due to optic atrophy, but no abnormal eye movements; spasticity; dysphagia; severely exaggerated gag reflex; active bite reflex-often bit his own lower lip; severe reflux; severely underweight; vomited nearly daily, frequent GI illness; minimal pubertal development: onset of pubic hair, slight enlargement of penis, no facial hair and voice did not change; failure to thrive; reactive airway disease; died suddenly at age 17; Analysis of PCR-based automated fluorescent sequencing of the 5' untranslated region, the intron-exon junction, and the coding region of the GJA12 gene detected a heterozygous base change c.966G>C in the GJA12 gene that does not result in amino acid changes; no mutations in GJA12 that would result in amino acid changes were detected; no duplications or mutations of the PLP gene were detected using multiplex PCR amplification and PCR-based automated fluorescent sequencing; whole exome sequencing of DNA revealed no pathogenic mutations in PLP1, GJC2, AIMP1, HSPD1, FAM126A, TUBB4A, POLR3A, POLR3B, or ALC16A2; treatments included: H2 blockers, nebulized Albuterol, and Baclofen; deceased affected sister (GM22060, fibroblast).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22090
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:
Gender性别:Male
Cell Type细胞类型: PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE UNKNOWN
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:ASHKENAZI
Family:2768
Relationship:brother
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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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