Name細胞名稱：NTCC? GM03813 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1 Skin, Arm Cell Line
脊髓性肌肉萎縮癥，II 型； SMA2 |運動神經元 1 的存活，端粒； SMN1細胞株
Description描述：Clinically affected; born after full term uncomplicated pregnancy; rolled over at 6 months old; began babbling at 9 months old; by 12 months old, there was marked muscle atrophy and weakness; absent deep tendon reflexes; constipation; donor subject has 3 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043); PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene; similarly affected brother (not in repository); mother is GM03814 (Fibro)/GM24474 (iPSC); father is GM03815 (Fibro); see GM23240 (iPSC - lentiviral) and GM24468 (iPSC - episomal); previously classified as SMA I, but data such as onset features and SMN2 dosage in the proband supported re-classification to SMA II.
Category分類：Fibroblast
ID編號:NTCC?-GM03813
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:3 YR
Gender性別:Male
Cell Type細胞類型: SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
Affected State:Yes
Product:Fibroblast
Gene:SMN1
Mutations突變:EX7-8DEL
Ethnicity:
Family:553
Relationship:proband
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: 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培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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