GM27327
iPSC from B-Lymphocyte
Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Protocols |
Protocol PDF |
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Biopsy Source
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Peripheral vein
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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 (Episomal)
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Sample Source
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iPSC from B-Lymphocyte
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Race
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Not Reported
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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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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,XX[25].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 |
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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| Remarks |
Clinically affected; D4Z4 fragment size was determined using Southern Blot analysis with probe p13E-11, which is localized immediately proximal to D4Z4, after double digestion of genomic DNA with EcoRI and BlnI restriction enzymes. This patient carries D4Z4 allele of 22kb on chromosome 4qA corresponding to 4 or less D4Z4 repeats, which is below the ≤10 repeat threshold for a pathogenic allele. The permissive haplotype 4qA carries polyadenylation signal (PAS) as determined using the primers and protocol described by Lemmers R.J.F. et al (Science, 2010). The 4qA, 4qB and chromosome 10q haplotype structures were determined by 4A/4A-L/4B subtelomere haplotyping, SSLP haplotyping, and 4qSTR analysis as described by Lemmers R.J.F. et al (Am J Hum Genet., 2010 and Science, 2010), Snider L. et al (PLoS Genetics, 2010), and Barat-Hourari M. et al (Euro J Hum Genet., 2010) and are as follows 4A161/4C166H, 10A166/10A166. Characterization of this line described by S.I. Jones et al, Neuromuscular Disorders (2016), http://dx.doi.org/doi:10.1016/j.nmd.2016.12.007; several affected family members; refer to catalog Family 1939 (Family 2 in the Jones publication); same subject as GM16277 (lymph). 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.. |
| Passage Frozen |
15 |
| Split Ratio |
1:6 |
| 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 10ng/ml |
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