Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Race Caucasian
Family Member 1
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX[23].arr[hg19] 20q11.21q11.22(29,955,446-33,791,591)x3
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)].
Passage Frozen 14
 
Induced Pluripotent Stem Cell The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 
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)].
No data is available
No data is available
Passage Frozen 14
Split Ratio 1:6
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent
Serum 20% Knock-out Serum Replacement Not inactivated
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 10 ng/ml