AG27427
iPSC from Fibroblast
Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
LAMIN A/C; LMNA
IPSC
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX[23].arr[hg19] 20q11.21q11.22(29,955,446-33,791,591)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
14 |
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| 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. |
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| 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)]. Researchers purchasing hiPSCs from the NIA Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| 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 |
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