GM25318
iPSC from Fibroblast
Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| 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 (Episomal)
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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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Country of Origin
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USA
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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.arr[hg19](1-22,X)x2
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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 |
12 |
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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 and PluriTest. 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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| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
R1743Q; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
ARG1743GLN |
| Remarks |
Clinically affected; diagnosed at age 2; mental retardation with IQ of 66; adenoma sebaceum over the nose and cheeks in a butterfly distribution; seizures that began about 6 months of age; numerous, variable sized areas of depigmentation over the legs, arms and back; shagreen patch in midline of upper back; forehead plaque; abnormal EEG at age 7, which showed right frontotemporal and left occipital focal abnormalities; donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 [Arg1743Gln (R1743Q)]; induced pluripotent stem cell line derived from fibroblast GM06102; lymphocyte is GM06101. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| Passage Frozen |
12 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
HES/Human ES Cell Medium |
| Serum |
10% Knock-out Serum Replacement Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
- |
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