GM27437
iPSC from Fibroblast
Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Protocols |
Protocol PDF |
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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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Ethnicity
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JEWISH
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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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Molecular characterization after cell line submission to CCR
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ISCN
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46,XX[24].arr(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 |
13 |
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
; RETT SYNDROME |
| Identified Mutation |
1155del32 |
| Remarks |
Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor subject carries a frameshift mutation, 1155del32, in the gene encoding methyl-CpG binding protein 2 (MECP2). Same subject as GM11272 (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. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
| Passage Frozen |
13 |
| Split Ratio |
10 |
| 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 |
- |
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