GM24308 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24308 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line
史密斯-马吉尼斯综合症；短信细胞株
Description描述：Clinically affected; symptom onset at birth; diagnosed at age 32; dysmorphic facial features; facial asymmetry; hemangioma; dental abnormalities; brachydactyly; pes planus; scoliosis; spina bifida occulta; dry skin; connective tissue nevi; cerebellar hypoplasia; strabismus; hearing defect; hypotonia; absent reflexes; decreased pain sensitivity; hoarse voice; laryngeomalacia; vascular compression (innominate artery); schwannoma spine tumor; ovarian tumors; constipation; gastroesophageal reflux; bicornuate uterus; elevated blood urea nitrogen; high cholesterol; short stature; failure to thrive; gross motor delay; speech delay; overweight/obese; autism (tested at age 3); autism spectrum disorder; pervasive developmental disorder; intellectual disability- IQ 94/ DQ69; oppositional defiant disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; mood disorder; disruptive behavior disorder; procedures include: bilateral myringotomy tubes; total hysterectomy; open chest 5x for vascular compression; medications include: Prozac, triamterene, glucophage, shark oil, prazosin; see GM23786 (Lymph); unaffected mother is GM24271 (Lymph).
Category分类：Fibroblast
ID编号:NTCC®-GM24308
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:35 YR
Gender性别:Female
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:ENGLISH/FRENCH/FINNISH/SWEDISH
Family:3105
Relationship:proband
Karyotype:46,XX,del(17)(p11.2).arr[hg19]17p11.2(17036268-19783974)x1
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net