Coriell Institute
Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks The sample was originally submitted with an uncertain diagnosis of either severe Werner syndrome or mild Progeria. Additional information that was made available suggested that the patient should be classified as Werner syndrome with the comment that the distinction was arbitrary without a biochemical test. The sample was obtained when the child was 13 yr old. She had short stature and dysmorphic features. Physical examination showed large coarse brown freckles over the entire body, thin skin on hands and feet, clinodactyly of 4th and 5th digits of each hand and 4th digit of the right foot, bilateral simian creases and decreased flexion of fingers bilaterally. Chromosome examination was normal. Impression was of accelerated aging. Height was 137.2 cm (<5th percentile), Wt 26 kg (<5th percentile) and head circumference 51.1 cm (<2nd percentile). Dentition was poor, and spine had scoliosis. She has the atrophic skin changes, short stature, beak nose and high-pitched voice common to both progeria and Werner syndrome. Family history was unremarkable. This donor is heterozygous for an A-to-T substitution at nucleotide 1945 (1945A>T) in exon 11 of the LMNA gene, resulting in a missense mutation in codon 578 [GLU578VAL (E578V)].
PDL at Freeze 6.4
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Gene LMNA
Chromosomal Location 1q21.2
Allelic Variant 1 E578V; WERNER SYNDROME
Identified Mutation GLU578VAL
Remark The sample was originally submitted with an uncertain diagnosis of either severe Werner syndrome or mild Progeria. Additional information that was made available suggested that the patient should be classified as Werner syndrome with the comment that the distinction was arbitrary without a biochemical test. The sample was obtained when the child was 13 yr old. She had short stature and dysmorphic features. Physical examination showed large coarse brown freckles over the entire body, thin skin on hands and feet, clinodactyly of 4th and 5th digits of each hand and 4th digit of the right foot, bilateral simian creases and decreased flexion of fingers bilaterally. Chromosome examination was normal. Impression was of accelerated aging. Height was 137.2 cm (<5th percentile), Wt 26 kg (<5th percentile) and head circumference 51.1 cm (<2nd percentile). Dentition was poor, and spine had scoliosis. She has the atrophic skin changes, short stature, beak nose and high-pitched voice common to both progeria and Werner syndrome. Family history was unremarkable. This donor is heterozygous for an A-to-T substitution at nucleotide 1945 (1945A>T) in exon 11 of the LMNA gene, resulting in a missense mutation in codon 578 [GLU578VAL (E578V)].
Toth JI, Yang SH, Qiao X, Beigneux AP, Gelb MH, Moulson CL, Miner JH, Young SG, Fong LG, Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes Proceedings of the National Academy of Sciences of the United States of America102:12873-8 2005
PubMed ID: 16129834
 
Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004
PubMed ID: 15060110
 
Blander G, Zalle N, Leal JF, Bar-Or RL, Yu CE, Oren M, The Werner syndrome protein contributes to induction of p53 by DNA damage. FASEB J14(14):2138-40 2000
PubMed ID: 11023999
 
Marciniak RA, Lombard DB, Johnson FB, Guarente L, Nucleolar localization of the Werner syndrome protein in human cells. Proc Natl Acad Sci U S A95(12):6887-92 1998
PubMed ID: 9618508
No data is available
Cumulative PDL at Freeze 13.5
Passage Frozen 5
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM
Serum 15% fetal bovine serum Not inactivated
Substrate None specified

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