GM27173
iPSC from Fibroblast
Description:
ISOGENIC CONTROL
LONG QT SYNDROME 2; LQT2
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Gene-Edited hiPSC
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 (Retroviral)
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Sample Source
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iPSC from Fibroblast
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Race
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Asian
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese
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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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Karyotypic analysis and Molecular characterization
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ISCN
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46,XX[18].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 |
55 |
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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. 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 |
This line is the isogenic control for the patient-derived line GM25305; Subject is clinically affected; EKG test: QT prolongation, 493 ms; FISH results at time of submission: 46 XX; comprehensive open reading frame and splice site analysis of protein-coding exons was conducted using polymerase chain reaction, denaturing high performance liquid chromatography, and DNA sequencing of genomic DNA from the subject; sequencing revealed a missense mutation in exon 6 of the KCNH2 (HERG) gene: 1264G>A, A422T; this novel pathogenic variant is localized at S1 in the transmembrane-spanning domain of the IKr potassium channel alpha subunit encoded by KCNH2; it is not known if parents had LQT mutation - parental samples were unavailable. 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.. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute. |
| Passage Frozen |
55 |
| Split Ratio |
4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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