Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; able to sit; donor subject is homozygous for deletion of exons 7 and 8 in the SMN1 gene and has 3 copies of the SMN2 gene.
PDL at Freeze 6.51
Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene SMN1
Chromosomal Location 5q12.2-q13.3
Allelic Variant 1 Exon 7 deleted; SPINAL MUSCULAR ATROPHY
Identified Mutation EX7DEL
 
Gene SMN1
Chromosomal Location 5q12.2-q13.3
Allelic Variant 2 Exon 7 deleted; SPINAL MUSCULAR ATROPHY
Identified Mutation EX7DEL
Remark Clinically affected; able to sit; donor subject is homozygous for deletion of exons 7 and 8 in the SMN1 gene and has 3 copies of the SMN2 gene.
No data is available
No data is available
Passage Frozen 6
Split Ratio 1:4
Temperature 37 C
Percent CO2 10%
Percent O2 AMBIENT
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified