GM26025
iPSC from Fibroblast
Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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Karyotypic analysis and Case history
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ISCN
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46,XX,del(17)(p13.1p13.3)[25].arr[hg19] 17p13.3p13.2(513-4,242,178)x1
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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 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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| Remarks |
Clinically affected; typical facies (bitemporal hollowing, thin downturned upper lip, micrognathia, microcephaly, high arched palate); ventricular septal defect; cell line initially noted additional diagnosis of a translocated chromosome, as it was submitted with the following karyotype: 46,XX,-17,+der(17),t(7;17)(p22.3;p13.2)pat; upon further analysis of several passages with advanced cytogenomic techniques, it was confirmed the translocation was not present in the cell line and this diagnosis has been subsequently removed; see GM06097 (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. |
| Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K, Dysregulation of mTOR signalling is a converging mechanism in lissencephaly Nature638:172-181 2025 |
| PubMed ID: 39743596 |
| Passage Frozen |
14 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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