Name細(xì)胞名稱(chēng)：NTCC? GM23415 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B B-Lymphocyte Cell Line
肌營(yíng)養(yǎng)不良，肢帶，2B 型； LGMD2B細(xì)胞株
Description描述：Clinically affected; symptom onset at 27 years of age; diagnosis at 28 years of age; mildly obese (BMI 36); hypertension;_x000D_ significant proximal weakness; primarily lower extremity weakness; ambulatory with history of frequent falls; needs to hang on to something while standing; knee, join, ankle, and hip pain while standing; cannot fully walk on heels; cannot walk on 錕絫iptoes錕? slightly exaggerated lumbar lordosis when walking; gait extremely tenuous; foot drop while walking; weakness in hands that affects grip, R>L; activities that require wrist flexion are difficult; difficulty with daily activities such as doing laundry and cooking;_x000D_ myopathic motor unit potentials more in lower extremities than upper extremities with complex repetitive discharges; dysferlin absent on western blot and calpain reduced; elevated CK level (5,080); donor subject has 2 mutations in the DYSF gene ([c.1398-1G>A]+[c.2071C>T (pQ691X)]); _x000D_ subject takes celebrex for joint pain; assistive devices include cane and wheelchair which is only used outside of the home for longer distances._x000D_
Category分類(lèi)：B-Lymphocyte
ID編號(hào):NTCC?-GM23415
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:40 YR
Gender性別:Female
Cell Type細(xì)胞類(lèi)型: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
Affected State:Yes
Product:LCL
Gene:DYSF
Mutations突變:c.1398-1G>A c.2071C>T (pQ691X)
Ethnicity:
Family:
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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