GM26260 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26260 NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB B-Lymphocyte Cell Line
线状肌病 2，常染色体隐性遗传； NEM2 |星云蛋白；鼻细胞株
Description描述：Clinically affected; normal MRI/CT scan of the brain; motor functions achieved: holding head up without assistance (maintained with difficulty) and sitting without assistance; motor functions never achieved: walking without assistance and running; diagnosis confirmed by WES; pathogenic variants in NEB: c.24318_24319insAA (p.Y8107NfsX74) inherited from the mother and c.17262G>A (p.W5754X) inherited from the father; pathogenic variant (inherited from the father and possibly associated with phenotype) in the HBB gene is: c.20A>T (p.E7V) the unaffected parents are GM26262 (mother) and GM26263 (father); same subject as GM26261 (fibro) and GM29112 (iPSC).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26260
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: More than one race
Age年龄:21 MO
Gender性别:Male
Cell Type细胞类型: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
Affected State:Yes
Product:LCL
Gene:HBB NEB
Mutations突变:C.17262 G>A c.24318_24319insAA GLU7VAL
Ethnicity:Polish, Dominican, Puerto Rican, Jamaican, CostaRi
Family:3368
Relationship:proband
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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