GM25335 NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25335 NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1 B-Lymphocyte Cell Line
线形肌病 3； NEM3 |肌动蛋白、α-1、骨骼肌； ACTA1细胞株
Description描述：Clinically affected; onset of symptoms at birth; born at 42 weeks; hypotonia; chronic respiratory failure and restrictive lung disease secondary to diagnosis; sleep apnea; dysphagia; gastroesophageal reflux; dextroscoliosis (80 degree curve); thoracic kyphosis; bilateral hip dysplasia-coxa valga; constipation; otitis media; moderate persistent asthma; speech impairment; global developmental delay; max motor function achieved: walking with assistance; current max motor function: sitting when placed; bi-directional sequence analysis of the coding region of the ACTA1 gene (exons 2-7) was performed and revealed that the donor is heterozygous for a c.758G>A (G253D, Gly253Asp) mutation in exon 5 of the ACT1A gene; assistive devices: wheelchair; knee-ankle-foot orthotics; tracheotomy tube; tympanostomy tubes; adenoidectomy; ventilator greater than 12 hours/day; daily airway clearance via cough assist; gastrostomy tube; growing rod implantation (T2-pelvis); medications: ibuprofen, Zantac, lactulose, Senna, ergocalciferol, Benadryl children锟絪 allergy, Nasonex, Singulair, ipratropium bromide, Albuterol, sodium chloride/albuterol nebulizer, Atrovent; fibroblast is GM25336.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25335
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:6 YR
Gender性别:Female
Cell Type细胞类型: NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
Affected State:Yes
Product:LCL
Gene:ACTA1
Mutations突变:GLY253ASP
Ethnicity:Australian/Irish/German/English
Family:3198
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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