Name細(xì)胞名稱：NTCC? GM24528 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A B-Lymphocyte Cell Line
肌營(yíng)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; unaffected parents are GM24331 (father) and GM24332 (mother); CMD confirmed with muscle biopsy; normal MRI or CT scan; no microcepahy; no macrocephaly; acheived and still maintains the following motor functions: held head up at 7 months, turned in bed at 2 years, sat at 7 months; mutation in the LAMA2 gene: c.7732C>T (pArg2578X).
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM24528
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:3 YR
Gender性別:Female
Cell Type細(xì)胞類型: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
Affected State:Yes
Product:LCL
Gene:LAMA2
Mutations突變:ARG2578TER
Ethnicity:MACEDONIAN
Family:3120
Relationship:proband
Karyotype:
Tissue Type組織來(lái)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):

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