Name細胞名稱：NTCC? GM24308 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line
史密斯-馬吉尼斯綜合癥；短信細胞株
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分類：Fibroblast
ID編號:NTCC?-GM24308
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:35 YR
Gender性別:Female
Cell Type細胞類型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突變:
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組織來源:Skin
Complete Growth Medium完全培養基: BioVector? Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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