GM29051 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANNOSIDASE, BETA A, LYSOSOMAL; MANBA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM29051 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANNOSIDASE, BETA A, LYSOSOMAL; MANBA Cell Line
甘露糖苷增多症，β A，溶酶体；曼斯巴德 |甘露糖苷酶，β A，溶酶体；曼巴细胞株
Description描述：Clinically affected. Beta-mannosidosis; hypomyelination. Umbilical cord blood transplant at age of 4 (PMID: 31115173), and a major regression 4 months later. Global developmental delay. Leukodystrophy. Hypotonia. Regression of gross motor skills. Vision affected at 11, currently blind. Recent tachycardia. Autism spectrum disorder. Compound heterozygous mutation in the MANBA gene: c.563_572dup (pathogenic) and c.1499G>A (VUS). Parents are GM29071 and GM29118. See "Phenotypic Data" tab.
Category分类：Fibroblast
ID编号:NTCC®-GM29051
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:12 YR
Gender性别:Male
Cell Type细胞类型: MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
Affected State:Yes
Product:Fibroblast
Gene:MANBA
Mutations突变:c.1499G>A (p.Arg500His) c.563_5/2dup (p.Trp192*)
Ethnicity:Norwegian, German, English
Family:NIGMS00052
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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