Name細(xì)胞名稱：NTCC? GM23670 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A B-Lymphocyte Cell Line
肌營養(yǎng)不良癥，先天性梅洛辛缺乏癥，1A； MDC1A細(xì)胞株
Description描述：Clinically affected; holds head up without assistance; turns in bed without assistance; sits without assistance; able to bottom scoot at 8 years of age; history of several pneumonias; mild LV enlargement and LV systolic dysfunction; poor appetite, excessive weight loss; seizures starting at age 11;diagnostic muscle biopsy showed: abundant fiber atrophy with some internalized nuclei and some regenerating fibers, abundant proliferation of connective tissue with some areas of fiber regeneration and necrosis; IHC showed complete absence of merosin staining; CPK:1065 IU/L; abnormal MRI/CT scan of the brain; heterozygous for the causative mutation in exon 54 of the LAMA2 gene, c.7491delA, p.Asp2498IlefsStop49; heterozygous for a previously undocumented variant in the exon 59/intron 58 junction in the LAMA2 gene, c.8244+3_+6delAAGT.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23670
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:15 YR
Gender性別:Male
Cell Type細(xì)胞類型: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
Affected State:Yes
Product:LCL
Gene:LAMA2
Mutations突變:7491delA 8244+3_+6delAAGT
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
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