AG28409
iPSC from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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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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American Indian/Alaska Native
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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 |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
83 bp ins/stop 34 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS5.1-2A>C |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
83 bp ins/stop 34 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS5.1-2A>C |
| Remarks |
The American Indian donor (XP23BE) is clinically affected with features of sun sensitivity, freckling, over 50 skin cancers, and an astrocytoma of the spinal cord. The donor also has a cystic bone disorder of unknown origin. He has consanguineous parents and a sibling who died of X P. A lymphoblast culture from same donor is AG10033. Donor subject is homozygous for an A>C transversion at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>C) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream. 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 |
15 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
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