GM26184
Fibroblast from Cartilage, Nasal
Description:
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Nasal
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Cell Type
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Fibroblast
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Tissue Type
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Cartilage
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Cartilage, Nasal
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Race
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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Italian, English, Irish, Mexican
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Country of Origin
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USA
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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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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TRPS1 |
| Chromosomal Location |
8q23.3 |
| Allelic Variant 1 |
p.Ser1067ArgfsStop; TRICHORHINOPHALANGEAL SYNDROME, TYPE I |
| Identified Mutation |
c.3198_3199delAT |
| Remarks |
Clinically affected; fibroblast cell line generated from biopsy of cartilage/mucosa from nasal septum; born to a 27-year old mother with induction at 38 weeks due to macrocephaly; neonatal complications include: macrocephaly and bulging fontanelle, group B strep, cephalohematoma, hypotonia and hyperbilirubinemia; subject previously diagnosed with Langer-Giedion syndrome and Legg-Perthes disease; prominent long nasal tip, bulbous nose, prominent left ear, prominent eyes, long philtrum, sparse hair growth, small mandible, angulated fingers with prominent joints, moderate pain in hips after excessive walking, thin nails, prominent second and third toes bilaterally, flat feet - cause of orthopedic problems, cone-shaped epiphysis of the phalanges; developmental and motor delays; cognitive deficit; delayed early milestones; developmental milestones: walked at 12 months of age, toilet trained at 2.5 years of age, and spoke first words at 3 years of age; at 4 years of age, height and weight in 50th percentile, head circumference above 90th percentile; at 4 years of age, MRI showed an extracranial group of tortuous vessels in the right posterior triangle of neck, leading to a murmur; socially immature; rage-like episodes; obsessive compulsive tendencies; anxiety in adolescence - treated with clonazepam due to suicidal tendency; tympanic membranes revealed bilateral scarring; bi-directional sequencing of all coding exons of the TRPS1 gene revealed a benign heterozygous mutation in exon 2, c.-9dupT (rs35329862) with an effect on pre-coding, and a de novo pathogenic heterozygous deletion in exon 7, c.3198_3199delAT (p.Ser1067ArgfsStop3); surgeries: bilateral tympanostomy, tonsillectomy; medications: Allegra and albuterol; therapies: special education, speech therapy, and occupational therapy as a child; family history of migraines; sister has Asperger, social delay, and sensory issues; no family history of TRPS1 and parents did not have clinical manifestation of TRPS1. |
| Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE, Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations American journal of medical genetics Part A173:1663-1667 2016 |
| PubMed ID: 28256045 |
| Cumulative PDL at Freeze |
8.36 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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