Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
ISCN 46,XX,t(2;10)(p13;q24)[4]/46,XX[19].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks Clinically normal; PCR analysis showed: donor subject has two copies of the SMN2; donor subject is heterozygous for deletion of exons 7 and 8 in the SMN1 gene; 2 affected children; unstable cytogentically.
PDL at Freeze 4.82
Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene SMN1
Chromosomal Location 5q12.2-q13.3
Allelic Variant 1 exons 7 and 8 deleted; SPINAL MUSCULAR ATROPHY, TYPE I
Identified Mutation EX7-8DEL
Remark Clinically normal; PCR analysis showed: donor subject has two copies of the SMN2; donor subject is heterozygous for deletion of exons 7 and 8 in the SMN1 gene; 2 affected children; unstable cytogentically.
Ebert, A.D. and Svendsen, C.N., Stem Cell Model of Spinal Muscular Atrophy Arch Neurol67(6):665-669 2010
PubMed ID: 20558385
 
Ebert, A.D.; Yu, J.; Ferrill, F.R.; Mattis, V.B.; Lorson, C.L.; Thomson, J.A.; and Svendsen, C.N., Induced pluripotent stem cells from a spinal muscular atrophy patient Nature457(7227):277-80 2009
PubMed ID: 19098894
 
Thi Man N, Humphrey E, Lam LT, Fuller HR, Lynch TA, Sewry CA, Goodwin PR, Mackenzie AE, Morris GE, A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy Neurology457(7227):277-80 2008
PubMed ID: 18633133
 
Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, Dreyfuss G, The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy Molecular and cellular biology25:5543-51 2005
PubMed ID: 15964810
 
Kelley BP, Lunn MR, Root DE, Flaherty SP, Martino AM, Stockwell BR, A flexible data analysis tool for chemical genetic screens. Chem Biol11(11):1495-503 2004
PubMed ID: 15556000
 
DiDonato CJ, Parks RJ, Kothary R, Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum Gene Ther14(2):179-88 2003
PubMed ID: 12614569
 
Gangwani L, Mikrut M, Theroux S, Sharma M, Davis RJ, Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. Nat Cell Biol3(4):376-83 2001
PubMed ID: 11283611
 
Scudiero DA, Polinsky RJ, Brumback RA, Tarone RE, Nee LE, Robbins JH, Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical. Mutat Res159:125-31 1986
PubMed ID: 3941662
No data is available
Passage Frozen 4
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated