GM28385
iPSC from Fibroblast
Description:
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
ACTIVIN A RECEPTOR, TYPE I; ACVR1
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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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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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Country of Origin
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USA
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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[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 |
17 |
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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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| Gene |
ACVR1 |
| Chromosomal Location |
2q24.1 |
| Allelic Variant 1 |
102576.0001; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP |
| Identified Mutation |
c.617G>A (p.Arg206His) |
| Remarks |
Cell line ID: TRNDi012-B (HT216B) from parental fibro GM00513 - PMID 34139597. 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. |
| Huang X, Roeder A, Li R, Beers J, Liu C, Zou J, Yu PB, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c 617G > A in the ACVR1 gene Stem cell research54:102424 2021 |
| PubMed ID: 34139597 |
| Passage Frozen |
17 |
| Split Ratio |
1:7 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
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