Name細(xì)胞名稱：NTCC? GM24283 SMITH-MAGENIS SYNDROME; SMS B-Lymphocyte Cell Line
史密斯-馬吉尼斯綜合癥；短信細(xì)胞株
Description描述：Clinically affected; symptom onset at birth; diagnosis at age 2.5 years; pregnancy history: polyhydramnios; dysmorphic facial features; brachycephaly; midface hypoplasia; dental abnormalities; strabismus; facial asymmetry; dry skin; pes planus; 2-3 bilateral toe syndactyly; weakness; hypotonia; decreased pain sensitivity; tetralogy of fallot (detected in utero); constipation; fine motor delay; gross motor delay; short stature; absent or sparse speech; intellectual disability; sleep disturbance; repetitive behaviors; multiple ear infections; myringotomy tubes; procedures include surgical repair of tetralogy of fallot; see GM24312 (fibro); unaffected mother is GM24284 (lymph).
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM24283
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:8 YR
Gender性別:Female
Cell Type細(xì)胞類型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:SWEDISH
Family:3110
Relationship:proband
Karyotype:46,XX,del(17)(p11.2p11.2).arr[hg19] 3q12.2(100340055-100442478)x3,17p11.2(16588061-20256498)x1
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):

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
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Email：Biovector@163.com
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