Name細(xì)胞名稱(chēng):NTCC? GM24296 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 15 years by geneticist and genetic counselor via FISH test; brachycephaly; midface retrusion (hypoplasia); frontal bossing; broad nasal bridge; abnormal ear shape; down-turned upper lip; prognathism; defective vision; iris abnormalities; decreased pain sensitivity; hearing defect; hypotonia; 1 leg shorter by 1.5cm; hip dysplasia; femoral acetabular impingement; pes planus; scoliosis; vertebral anomaly; elbow limitations; fine motor delay; gross motor delay; short stature; intellectual delay (IQ showed 60 and 61 on separate tests); sleep disturbance; brief period of self-injurious behavior; medications include Depakote, Risperdone and Lyvoxal; see fibro (GM25372); unaffected father is GM24297; unaffected mother is GM24298.Category分類(lèi):B-LymphocyteID編號(hào):NTCC?-GM24296Size/Quantity數(shù)量: 1 Flask/2 VialsBiosafety Level生物安全級(jí)別:1Shipping Info運(yùn)輸方式: RT/Dry IceStorage儲(chǔ)存方式: RT/Liquid NitrogenRace: WhiteAge年齡:20 YRGender性別:MaleCell Type細(xì)胞類(lèi)型: SMITH-MAGENIS SYNDROME; SMSAffected State:YesProduct:LCLGene:Mutations突變:Ethnicity:POLISHFamily:3115Relationship:probandKaryotype:46,XY,del(17)(p11.2p11.2).arr[hg19] 15q11.1q11.2(20216942-22673387)x1,17p11.2(16774136-18073610)x1Tissue Type組織來(lái)源:BloodComplete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete MediumSubculturing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 phaseCulture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°CSTR 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
http://www.biovector.net
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