Name細胞名稱：NTCC? GM24312 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; 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 GM24283 (Lymph); unaffected mother is GM24284 (Lymph).
Category分類：Fibroblast
ID編號:NTCC?-GM24312
Size/Quantity數(shù)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:8 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:SWEDISH
Family:3110
Relationship:proband
Karyotype:46,XX,del(17)(p11.2p11.2).arr[hg19] 15q11.1q11.2(20422365-22588019)x3,17p11.2(16662913-20256498)x1
Tissue Type組織來源:Skin
Complete Growth Medium完全培養(yǎng)基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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:

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