GM04648肌营养不良1； DM1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04648 DYSTROPHIA MYOTONICA 1; DM1 B-Lymphocyte Cell Line
肌营养不良1； DM1细胞株
Description描述：Clinically affected; diagnosed at age 22; bilateral cataracts; frontal baldness; bilateral ptosis; limitation of full lid closure; myotonic ocular response; facial diparesis; diminished phonation amplitude; weakness of intrinsic muscles of the face; myotonic lingual response; loss of muscle bulk to the hands; depressed deep tendon reflexes; myotonia evident with hand grip and after thenar percussion; weakness to the extensors and flexors of the wrist and to the intrinsic muscles of the hands; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1000 (minor species at ~700-800) in the DMPK gene; affected father is GM04573; affected grandfather is GM05142; affected paternal aunt is GM05281; see GM04647 fibroblast
Category分类：B-Lymphocyte
ID编号:NTCC®-GM04648
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:23 YR
Gender性别:Male
Cell Type细胞类型: DYSTROPHIA MYOTONICA 1; DM1
Affected State:Yes
Product:LCL
Gene:DMPK
Mutations突变:(CTG)n EXPANSION
Ethnicity:
Family:752
Relationship:son
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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