Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Ethnicity LEBANESE
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; fetal hydrops; hepatosplenomegaly noted prenatally; abnormal fetal movements in utero; congenital ichthyosis; infant died within 2 hours of birth; autopsy revealed colloidin-type skin, ectropia of eyes, flattened nose, absent palmar and distal pharyngeal flexure creases, flexion deformities of the left fifth finger and knee, low-set ears, hypoplastic nails and digits, massive hepatosplenomegaly, bilateral eventration of the diaphragm, ventricular septal defect, and biventricular hypertrophy; neonatal blood testing revealed thrombocytopenia, markedly raised white cell count, raised alkaline phosphatase, raised lactate and pyruvate; biopsies from all organs showed infiltration with cells characteristic of Gaucher's; leucocyte B-glucocerebrosidase activity was markedly deficient; donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene.
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 1 crossover between GBA and pseudogene; GAUCHER DISEASE, TYPE II OR III
Identified Mutation RECOMBINANT (EXON 9)
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 2 crossover between GBA and pseudogene; GAUCHER DISEASE, TYPE II OR III
Identified Mutation RECOMBINANT (EXON 9)
Remark Clinically affected; fetal hydrops; hepatosplenomegaly noted prenatally; abnormal fetal movements in utero; congenital ichthyosis; infant died within 2 hours of birth; autopsy revealed colloidin-type skin, ectropia of eyes, flattened nose, absent palmar and distal pharyngeal flexure creases, flexion deformities of the left fifth finger and knee, low-set ears, hypoplastic nails and digits, massive hepatosplenomegaly, bilateral eventration of the diaphragm, ventricular septal defect, and biventricular hypertrophy; neonatal blood testing revealed thrombocytopenia, markedly raised white cell count, raised alkaline phosphatase, raised lactate and pyruvate; biopsies from all organs showed infiltration with cells characteristic of Gaucher's; leucocyte B-glucocerebrosidase activity was markedly deficient; donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene.
Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E, Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat15(2):181-8 2000
PubMed ID: 10649495
No data is available
Passage Frozen 10
Split Ratio 1:2
Temperature 37 C
Percent CO2 8%
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA