GM27925
iPSC from Fibroblast
Description:
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
COLLAGEN, TYPE I, ALPHA-2; COL1A2
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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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Ethnicity
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AMISH
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Country of Origin
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USA
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Family Member
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2
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Relation to Proband
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son
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY[19]
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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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| Gene |
COL1A2 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
G610C; OSTEOGENESIS IMPERFECTA, TYPE IV |
| Identified Mutation |
GLY610CYS |
| Remarks |
Clinically affected; skin biopsy taken from the arm; white sclerae; good dentition; history of joint laxity; elevated alkaline phosphatase; bone density score for spine and hip (neck) indicates osteoporosis; history of one fracture; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)]; affected father is GM17410 (fibro); Same subject as GM17413 (lymph) and GM17414 (fibro); 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. |
| Passage Frozen |
13 |
| 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 Not inactivated |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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