GM28959
iPSC from Fibroblast
Description:
TUBEROUS SCLEROSIS 1; TSC1
TSC1 GENE; TSC1
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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 (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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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,XY[20]
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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 |
15 |
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| Induced Pluripotent Stem Cell |
The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line 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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| Gene |
TSC1 |
| Chromosomal Location |
9q34 |
| Allelic Variant 1 |
W750X; TUBEROUS SCLEROSIS, TYPE I |
| Identified Mutation |
TRP750TER |
| Remarks |
Reprogrammed from parental line GM06149 (fibroblast); same subject as GM06146 (lymphocyte); clinically affected; seizures; hypopigmented macules on right shoulder, right thigh, left chest, right knee, lower back and right upper arm; café-au-lait spot on right wrist; confetti hypopigmentation over back and legs; myopia; at age 17 there were no shagreen patches, ungual fibromas or adenoma sebaceum; calcifications in brain; donor subject is heterozygous for G>A transition at nucleotide 2249 in exon 18 of the TSC1 gene [2249G>A] resulting in a substitution of a termination signal for tryptophan at codon 750 [Trp750Ter (W750X)]; polymorphisms in the TSC1 gene include 2829C>T; polymorphisms in the TSC2 gene include 479-3C>T, 5161-10A>C, 5202T>C, 5259+72C>T; affected father is GM06148 (fibroblast) and affected brother is GM06150 (fibroblast). 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 Sendai-CytoTune. |
| Passage Frozen |
15 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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