GM11902
Fibroblast from Skin, Foreskin
Description:
SPONDYLOPERIPHERAL DYSPLASIA
COLLAGEN, TYPE II, ALPHA-1; COL2A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Foreskin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Foreskin
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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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Clinical summary/Case history
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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 |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
COL2A1 |
| Chromosomal Location |
12q13.11-q13.2 |
| Allelic Variant 1 |
; SPONDYLOPERIPHERAL DYSPLASIA |
| Identified Mutation |
c.4337dupG (p.Lys1447Cysfs*18) |
| Remarks |
Foreskin fibroblast culture; parents are GM12220 & 12221 Lymphoid; short limbs; large head; small chest; hypoplastic lungs; inverted nose; platyspondylia; expired at age 4 mo |
| Okada M, Ikegawa S, Morioka M, Yamashita A, Saito A, Sawai H, Murotsuki J, Ohashi H, Okamoto T, Nishimura G, Imaizumi K, Tsumaki N, Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells Human molecular genetics24:299-313 2014 |
| PubMed ID: 25187577 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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