Name細(xì)胞名稱：NTCC? GM24240 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1 B-Lymphocyte Cell Line
烏爾里希先天性肌營養(yǎng)不良癥； UCMD1 |膠原蛋白，II 型，ALPHA-1；列2A1細(xì)胞株
Description描述：Clinically affected; progressive proximal weakness; contractures in ankles and knees;distal laxity;hyperkeratosis pilaris; rigid spine; easy fatigability; difficulty swallowing certain types of foods; maximum motor function ever achieved and still maintained: climbs stairs with handrail; holds head up, turns in bed, sits, stands, and walks indoors and outdoors without assistance; cannot run; mild sensory integration issues; behavioral problems; attention difficulties; cognitively bright; slightly elevated CK 400錕絪; functional mobility score: 3; CMD diagnosis confirmation by CK (blood test, creatine kinase abnormal) and genetic testing; COL6A3 mutation: heterozygous at junction of intron 18 and exon 19 at c.6310-2A>G which is predicted to interfere with the intron 18 splice acceptor site (mutation maybe working in a dominant manner); abnormal MRI /CT scan:"pineal gland cystic appearance, no mass present"; EMG myopathic.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM24240
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:6 YR
Gender性別:Male
Cell Type細(xì)胞類型: ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE II, ALPHA-1; COL2A1
Affected State:Yes
Product:LCL
Gene:COL6A3
Mutations突變:c.6310-2A>G
Ethnicity:Polish, Western European
Family:3142
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
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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