characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1375

characteristic: tag

text: GM10862 male unaffected Ceph/utah pedigree 1375 sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 47 YR

tag: attribute

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND21250 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1375

text: GM10863 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21251 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother

text: UTAH/MORMON

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1377

text: International hapmap project - ceph (plate ii) utah residents with ancestry from northern and western europe

text: GM10864 female unaffected Ceph/utah pedigree 1377 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21252 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1377

text: GM10865 male unaffected Ceph/utah pedigree 1377 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND21260 male unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Mucopolysaccharidosis type ii

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Low-normal iduronate sulfatase activity in WBC;absent activity in plasma;donor subject is hemizygous for a G>C transversion at nucleotide 1403 of the IDS gene (1403G>C) resulting in the substitution of proline for arginine at codon 468 Arg468Pro (R468P)

text: proband

text: IDS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Mucopolysaccharidosis type ii

text: GM10866 male affected Mucopolysaccharidosis type ii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND21263 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal plasma and WBC iduronate sulfatase activity;1 affected son

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Mucopolysaccharidosis type ii

text: GM10867 female unaffected Mucopolysaccharidosis type ii sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21272 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Gaucher disease type i

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;mild splenomegaly;about 12% of normal acid B-glucosidase activity in lymphoid culture;donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene 1226A>G resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) (codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG).

text: ASHKENAZI

characteristic: ethnicity

text: GBA

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM10870 female affected Gaucher disease type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 2 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND21280 female affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Gaucher disease type i

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;asymptomatic;about 10% of normal acid B-glucosidase activity in lymphoid culture;donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

characteristic: description

text: ASHKENAZI

text: GBA

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM10871 female affected Gaucher disease type i sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: parent

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND21282 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Gaucher disease type i

text: 79 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;mild splenomegaly;2 affected siblings;about 14% of normal lymph culture acid B-glucosidase activity;donor subject is homozygous for an A>G transition at nucleotide 1226 in exon 9 of the GBA gene (1226A>G) resulting in a substitution of serine for asparagine at codon 370 Asn370Ser (N370S) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: ASHKENAZI

characteristic: ethnicity

text: GBA

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM10873 male affected Gaucher disease type i sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21283 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Gaucher disease type i

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Ashkenazi;massive splenomegaly;mild hepatomegaly;about 8% of normal fibroblast acid B-glucosidase act;donor subject is a compound heterozygote: one allele carries a single-base mutation (adenosine to guanosine transition) in exon 9 at nucleotide 1226 (1226A>G) of the glucocerebrosidase gene (GBA) which results in the amino acid substitution of serine for asparagine Asn370Ser (N370S);the second allele has a G>A transition at nucleotide 476 (476G>A) which results in the substitution of glutamine for arginine at codon 120 Arg120Gln (R120Q) codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

characteristic: description

text: ASHKENAZI

text: GBA

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM10874 male affected Gaucher disease type i sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21284 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fryns syndrome

text: 27 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Parents are 3rd cous;expired within a few hours of premature birth;coarse facies with upturned nose & broad mouth;hypoplasia of distal digits & nails with DIP flexion contractures;cardiomegaly;parents are GM10930 & 10931 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: FRNS

text: Fryns syndrome

text: GM10879 female affected Fryns syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21285 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: XP1BE;10-20% of normal UV induced unscheduled DNA synthesis;see GM02246 (lymphoblastoid);skin manifestations but no neurological abnormalities;developed freckles by age 2;1st tumor at age 4;by age 28;over 100 neoplasma;including malignant melanomas;developed;corneal edema;the donor subject carries a deletion of the dinucleotide AA at positions 1132 and 1133 in the cDNA of the XPC gene;resulting in premature termination of the protein by a new stop codon 15 nucleotides downstream. The deletion may be either homozygous or hemizygous.

text: proband

text: XPC

characteristic: gene

text: 2-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

text: XPC

text: GM10881 female affected Xeroderma pigmentosum, complementation group c sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Epilepsy

text: ND21286 male affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: TD

text: 22 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Short-limbed platyspondylia;megalencephaly;temporal lobe dysplasia;bellshaped thorax;shortened ribs and long bones;bowed femora;kyphosis;parents are GM10893 and 10894 Lymphoid;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

characteristic: description

text: proband

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM10892 male affected TD sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND21287 female unaffected Control sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;affected son is GM10892 Fibroblast;another son has Down syndrome

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: TD

text: Thanatophoric dysplasia

text: Apparently healthy non-fetal tissue

text: GM10893 male unaffected Apparently healthy non-fetal tissue sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 67 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21295 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: TD

text: Thanatophoric dysplasia

text: Apparently healthy non-fetal tissue

text: GM10894 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21296 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;obligate heterozygote;has three affected children including GM10902 and GM10904 for which mutations in the CSB gene are known;see GM10901 Fibroblast

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: De sanctis-cacchione syndrome

text: Excision-repair cross-complementing group 6

text: GM10900 female unaffected De sanctis-cacchione syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND21299 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;obligate heterozygote;has three affected children including GM10903 and GM10905 for which mutations in the CSB gene are known;see GM10900 Lymphoid

text: HISPANIC

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: De sanctis-cacchione syndrome

characteristic: tag

text: GM10901 female unaffected De sanctis-cacchione syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21300 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: De sanctis-cacchione syndrome

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;easy sunburning with cutaneous changes of XP on biopsy;mental retardation with small stature & microcephaly;parents are distant relatives;affected brother is GM10904;see GM10903 Fibroblast for ERCC6 mutation data

text: HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: De sanctis-cacchione syndrome

text: GM10902 female affected De sanctis-cacchione syndrome sample


text: Coriell

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND21301 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: De sanctis-cacchione syndrome

text: 9 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;marked growth retardation without signs of the cachectic dwarfism seen in Cockayne syndrome;microcephaly;facial hyperpigmented macules and telangiectasias;spasticity of the limbs;ocular and cutaneous solar sensitivity;parents are distant relatives;affected brother is GM10905;see GM10902 Lymphoid;donor subject is homozygous for a C>T transition at nucleotide 2282 (2282C>T) in the ERCC6 gene;resulting in a nonsense mutation at codon 735 ARG735TER (R735X);the donor subject is also homozygous for a silent change at nucleotide 2830 a C>T transition (2830C>T;GLY917GLY) .

characteristic: description

text: HISPANIC

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: De sanctis-cacchione syndrome

text: GM10903 female affected De sanctis-cacchione syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND21302 male affected Tourette syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: De sanctis-cacchione syndrome

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sun sensitivity & olivopontocerebellar atrophy with peripheral neuropathy;parents are distant relatives;affected sister is GM10902;see GM10905 Fibroblast for ERCC6 gene mutation data

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: De sanctis-cacchione syndrome

characteristic: tag

text: GM10904 male affected De sanctis-cacchione syndrome sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND21303 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: De sanctis-cacchione syndrome

text: 10 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;marked growth retardation without signs of the cachectic dwarfism seen in Cockayne syndrome;microcephaly;facial hyperpigmented macules and telangiectasias;spasticity of the limbs;ocular and cutaneous solar sensitivity;parents are distant relatives;affected brother is GM10905;donor subject is homozygous for a C>T transition at nucleotide 2282 (2282C>T) in the ERCC6 gene;resulting in a nonsense mutation at codon 735 ARG735TER (R735X);the donor subject is also homozygous for a silent change at nucleotide 2830 a C>T transition (2830C>T;GLY917GLY) .

characteristic: description

text: brother

characteristic: gene

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: De sanctis-cacchione syndrome

text: GM10905 male affected De sanctis-cacchione syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21305 female affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal level of serum transferrin;donor subject is negative for the missense mutation seen in exon 3 of the TF gene in other family members ASP77ASN (D77N) .

text: SLAVIC

characteristic: ethnicity

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Atransferrinemia

text: GM10911 male unaffected Atransferrinemia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21306 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 27 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;about one half normal level of serum transferrin;donor subject is heterozygous for a G>A transition at nucleotide 229 (c.229G>A) in exon 3 of the TF gene;which results in a missense mutation at codon 77 ASP77ASN (D77N) .

text: SLAVIC

text: brother

text: TF

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Atransferrinemia

text: TF

text: Transferrin

text: GM10912 male unaffected Atransferrinemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21307 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: SLAVIC

characteristic: family id

text: father

text: TF

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

text: Atransferrinemia

text: TF

text: Transferrin

text: GM10913 male unaffected Atransferrinemia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND21308 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Atransferrinemia

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Atransferrinemic;severely reduced level of serum transferrin;the donor subject is homozygous for a G>A transition at nucleotide 229 (c.229G>A) in exon 3 of the TF gene;which results in a missense mutation at codon 77 ASP77ASN (D77N);in addition;this donor subject also had the following polymorphisms: c.-84G/G;c.-2G/G;IVS4+110T/T;IVS4-60T/T;c739T/TLeu247Leu;IVS8+61C/C;and IVS10-23C/C.

text: SLAVIC

characteristic: ethnicity

text: proband

text: TF

text: Homo sapiens

text: Caucasian

text: Female

text: Atransferrinemia

characteristic: tag

text: TF

text: Transferrin

text: GM10914 female affected Atransferrinemia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21309 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Gaucher disease type i

text: 7 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Italian;expired age 7.5;severe hepatosplenomegaly;bilateral sensorineural hearing loss;no other CNS findings;parents 1st cousins;7% of normal fibroblast B-glucosidase activity;donor subject is homozygous for a T>C transition at nucleotide 1448 (1448T>C) in exon 10 of the GBA gene resulting in a substitution at codon 444;Pro for Leu Leu444Pro (L444P);codons are numbered from the first codon of the mature protein;the cDNA is numbered from the first initiating AUG

text: ITALIAN

text: GBA

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Gaucher disease type i

text: GBA

text: Glucosidase acid beta

text: GM10915 male affected Gaucher disease type i sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21310 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;cleft palate;heart defect;lip pits;IgG deficiency;hyperextensible joints

characteristic: description

text: MEXICAN-AMERICAN

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM10918 female unaffected Chromosome deletion sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21311 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Gangliosidosis generalized gm1 type i

text: 8 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mildly coarse facial features;startles easily;puffy eyelids;hepatomegaly;<1% of control fibroblast beta-galactosidase activity and normal alpha-neuraminidase activity

text: Homo sapiens

text: Caucasian

text: Male

text: Gangliosidosis generalized gm1 type i

text: GM10919 male affected Gangliosidosis generalized gm1 type i sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21312 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Small;hypotonic;atrio-ventricular septal defect;hyperthyroidism;refractive amblyopia

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: GM10922 male unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Tourette syndrome

text: ND21313 female affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Child with del(7)(p13p15) karyotype;spouse of GM10924;father of GM10925 Lymphoid;46;XY;16qh+;4% of cells show random chromosome loss;son with del(7) has Greig cephalopolysyndactyly syndrome

text: GERMAN

characteristic: ethnicity

text: father

text: 45;X 2 /46;XY 48;46;XY;16qh+

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: GM10923 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 56 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21314 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Child with del(7)(p13p15) karyotype;spouse of GM10923;mother of GM10925 Lymphoid;46;XX;son with del(7) has Greig cephalopolysyndactyly syndrome

text: GERMAN/DANISH

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Apparently healthy non-fetal tissue

text: GM10924 female unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Progressive supranuclear palsy

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Progressive supranuclear palsy

text: ND21316 female affected Progressive supranuclear palsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: GCPS

text: 4 DA

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Broad nasal bridge;extra digits;fused digits;ventricular septal defects;and coarctation of aorta;46;XY;del(7)(pter> p14::p12>qter);parents are GM10923 and 10924 Lymphoid

characteristic: description

text: proband

text: 46;XY;del(7)(pter->p14::p12->qter).arr 7p14.1p11.2(38598541-54681998)x1;46;XY;del(7)(pter>p14::p12>qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Copy number variation (cnv) reference panel

text: Greig cephalopolysyndactyly syndrome

text: Chromosome deletion

text: GCPS

text: GM10925 male affected GCPS sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 67 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: ND21317 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;normal level of serum transferrin;donor subject is heterozygous for a G>A transition at nucleotide 229 (c.229G>A) in exon 3 of the TF gene;which results in a missense mutation at codon 77 ASP77ASN (D77N) .

text: SLAVIC

characteristic: ethnicity

text: mother

text: TF

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Atransferrinemia

characteristic: tag

text: TF

text: Transferrin

text: GM10929 female unaffected Atransferrinemia sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 35 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Unrelated condition upon exam

text: ND21318 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

characteristic: description

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: FRNS

text: Fryns syndrome

text: GM10930 female unaffected Fryns syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Unrelated condition upon exam

text: ND21319 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: Unrelated condition upon exam

text: ND21320 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: FRNS

text: Fryns syndrome

text: GM10931 male unaffected Fryns syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21325 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 40 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Both parents have normal karyos;expired shortly after birth;left diaphragmatic hernia;pulmonary hypoplasia;atrial septal defect;secundum type;unilocular cyst of lung;hypospadias & small penis;undescended lft testis;accessory spleen

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Chromosome deletion

text: GM10932 male unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21326 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 73 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mildly retarded;wide-spaced eyes;small jaw;normal-set ears;short metacarpals & metatarsals;multiple eye surgeries;kyphosis & scoliosis;developmental delay;deaf;arthritis;deletion may be terminal or interstitial

characteristic: description

characteristic: family id

text: proband

text: 46;XX;del(5)(:p14->qter) 22 /46;XX;del(5)(:p14->qter);add(17)(?::p13->qter) 3 .arr 5p15.33p14.2(68519-23869189)x1;22q11.21(17256415-17386984)x3;46;XX;del(5)(qter>p14:)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM10933 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Mexican

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21331 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;4 spontaneous abortions at 6-8 weeks gestation

text: IRISH

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

characteristic: tag

text: GM10935 female unaffected Translocated chromosome sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Mexican

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21332 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Decreased visual acuity;nystagmus;foveal hypoplasia;coarse facies;upslanting palpebral fissures;elongated philtrum;developmental delay;profound hypotonia;46;XY;rec(6);del q;inv ins (6) (p21.3;q15q13)mat

text: proband

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Male

text: Albinism, oculocutaneous type ii

text: Marker chromosome

text: Copy number variation (cnv) refernece panel 02

text: GM10946 male unaffected Marker chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND21333 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 20 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Intrauterine growth retardation;clinodactyly;overlapping toes

characteristic: description

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM10947 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21334 male affected Tourette syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: TD

text: 21 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Symmetrical shortening of extremities;prominent bowing of femora & tibias;valgus deform of norm-sized feet bilat;mild narrowing of upper thorax;head lg relative to face;'telephone receiver' deformity of femora;U-shaped vertebrae;donor subject has a C>T transition at nucleotide 742 in exon 6 of the FGFR3 gene (742C>T) resulting in a substitution of cysteine for arginine at codon 248 Arg248Cys (R248C)

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: TD

text: Thanatophoric dysplasia

text: Fibroblast growth factor receptor 3

text: GM10949 female affected TD sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: born in Indonesia (Dutch)

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND21335 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 16 FW

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Chromosome deletion

text: GM10951 female unaffected Chromosome deletion sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

characteristic: tag

text: ND21336 male affected Tourette syndrome sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Open anterior and posterior fontanel;congenital heart disease;abnormal fingers;annular pancreas;cannot rule out an interstitial deletion

characteristic: description

text: Homo sapiens

text: Asian

text: Female

text: Chromosome deletion

text: GM10954 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21341 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 3 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;mother is GM10959 Lymphoid;brother with the unbalanced translocation is GM10995 Fibroblast

text: sister

text: 46;XX;t(1;11)(1pter>1q31.2::11q25> 11qter;11pter>11q25::1q31.2>1qter)pat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Translocated chromosome

text: GM10958 female unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND21342 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Husband (GM10960) and daughter (GM10958) have balanced t(1;11) karyotypes;son with the unbalanced translocation is GM10995 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Apparently healthy non-fetal tissue

characteristic: tag

text: GM10959 female unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21343 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;spouse is GM10959 Lymphoid;son with the unbalanced translocation is GM10995 Fibroblast

characteristic: description

text: father

text: 46;XY;t(1;11)(1pter>1q31.2::11q25> 11qter;11pter>11q25::1q31.2>1qter)

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM10960 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 44 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21344 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 30 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hypoplastic;wide-spaced nipples;microphallus;hypoplastic 3rd toe;hepatosplenomegaly;coarctation of the aorta;hypotelorism

text: CAMBODIAN

characteristic: ethnicity

text: 46;XY;inv(9)(pter>q22::q33>q22::q33>qter).ish inv(9)(wcp9+;D9S325+)

characteristic: karyotype

text: Homo sapiens

text: Asian

characteristic: race

text: Male

text: Inverted chromosome

text: GM10961 male unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: unknown if this person is Hispanic or Latino

characteristic: family id

text: father

text: Homo sapiens

text: Male

characteristic: sex

characteristic: tag

text: ND21347 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: 46;XX;t(5;12)(5pter>5q33::12q24.3> 12qter;12pter>12q24.3::5q33>5qter);balanced

text: Homo sapiens

text: Black

text: Female

text: Translocated chromosome

text: GM10962 female unaffected Translocated chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: not sure if she is hispanic of latino

text: proband

text: Homo sapiens

text: Female

text: Tourette syndrome

text: ND21348 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Marshall syndrome

text: 8 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother;maternal grandfather;& 2 sibs are also affected;hypertelorism;ectodermal dysplasia;heart murmur;bilateral cryptorchidism;developmental delay;decreased visual acuity;scoliosis;see GM10981 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Marshall syndrome

text: GM10980 male affected Marshall syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND21349 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Marshall syndrome

text: 8 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mother;maternal grandfather;& 2 sibs are also affected;hypertelorism;ectodermal dysplasia;heart murmur;bilateral cryptorchidism;developmental delay;decreased visual acuity;scoliosis;see GM10980 Lymphoid

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Marshall syndrome

text: GM10981 male affected Marshall syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21363 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Marshall syndrome

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother;maternal grandfather;& 2 sibs are also affected;hypertelorism;ectodermal dysplasia;heart murmur;questionable amblyopia;bilateral cryptorchidism;46;XY in PBL

text: brother

text: Homo sapiens

text: Black

text: Male

text: Marshall syndrome

text: GM10982 male affected Marshall syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 25 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21364 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Marshall syndrome

text: 11 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother;maternal grandfather;& 2 sibs are also affected;hypertelorism;questionable developmental delay;heart murmur;ectodermal dysplasia;46;XX in PBL;PCR amplification of the exons and the exon-intron boundaries of the 54 exons of COL2A1 and the 67 exons of COL11A1 concluded that neither a splicing mutation of 54-bp exon in the C-terminal region of COL11A1 nor the several mutations identified in COL2A1 in patients with MS/SS phenotype are the basis of MS in this family

text: sister

text: Homo sapiens

text: Black

text: Female

text: Marshall syndrome

text: GM10983 female affected Marshall syndrome sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND21365 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Feeding problems;ptosis;blepharophimosis;telecanthus;failure to thrive;growth delay;peculiar facies;abnormal kidney positioning and orientation

characteristic: description

text: 46;XX;del(3)(:p25->qter).arr 3p26.3p25.3(35333-10305377)x1;46;XX;del(3)(qter>p25:)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Copy number variation (cnv) reference panel

text: Chromosome deletion

text: GM10985 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Cerebral infarction, silent

text: 65 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cerebral infarction, silent

text: Ischemic stroke

text: ND21369 male affected Cerebral infarction, silent sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 1 DA

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired 45 minutes post delivery with multicystic dysplasia of kidneys;IUGR;atrial septal defect;persistent left superior vena cava and malpositioned hair whorl;sister and father;GM10958 and GM10960 Lymph;have the balanced translocation

text: proband

text: 46;XY;der(11)(11pter> 11q25::1q31.2>1qter)pat

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Translocated chromosome

characteristic: tag

text: GM10995 male affected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND21370 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected sons;mother of GM11003;11004;11005;and 11006

text: GERMAN

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM11002 female unaffected Pelizaeus-merzbacher disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21372 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected brothers;possible carrier;daughter of GM11002

characteristic: description

text: GERMAN/IRISH

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM11003 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND21373 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 10 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: GERMAN/IRISH

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PMD

characteristic: tag

text: Pelizaeus-merzbacher disease

text: GM11004 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND21374 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Pelizaeus-merzbacher disease

text: 8 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;onset at age 3 mo;diagnosed at age 7 mo;height;weight;& head circumference <5th %ile;constant coarse head tremor;visual handicap;nystagmus;quadriparesis;developmental delay;similarly affected brother;son of GM11002;donor subject has a duplication of the PLP1 gene

text: GERMAN/IRISH

text: proband

characteristic: gene

text: DUP

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PMD

text: Pelizaeus-merzbacher disease

text: GM11005 male affected Pelizaeus-merzbacher disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND21375 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Pelizaeus-merzbacher disease

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Height;weight;& head circumference <5th %ile;visual handicap;quadriparesis;onset at age 3 mo;MRI confirmed diagnosis at age 6 mo;son of GM11002

characteristic: description

text: GERMAN/IRISH

characteristic: ethnicity

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: PMD

text: Pelizaeus-merzbacher disease

text: GM11006 male affected Pelizaeus-merzbacher disease sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND21377 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XX;inv ins (6) (p21.3;q15q13)/47;XXX;inv ins(6)(p21.3;q15q13);15%/85%;normal visual acuity;no evidence of nystagmus or strabismus;normal fundus exam;retinal pigment;luteal pigment;& foveal reflex

text: mother

text: 47;XXX;ins(6)(pter>p21.3::q13> q15::p21.3>q13::q15>qter) 85 /46;XX;ins(6)(pter>p21.3::q13> q15::p21.3>q13::q15>qter) 15

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Albinism, oculocutaneous type ii

text: Marker chromosome

text: GM11012 female unaffected Albinism, oculocutaneous type ii sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 33 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Tourette syndrome

text: ND21379 female affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Muscular dystrophy: duchenne type

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected female;X/autosome de novo balanced chromosome translocation;normal X chromosome is late replicating;negative family history;hypotonia;delayed milestones;microcephaly;performance IQ of 22;flat-footed;slapping gait;positive Gower's sign;calf hypertrophy;diminished reflexes;marked proximal muscle weakness of hips and shoulder girdles;at age 14 showed signs of a spastic diplegia with hyperreflexia and ankle clonus;flexion contractures of both elbows;EMG showed evidence of myopathy;muscle biopsy showed changes reflecting a severe active necrotizing myopathy;elevated CPK ranging from 40 to 28;000 over the course of 13 years;no dystrophin gene deletion/duplication detectable by PCR.

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Muscular dystrophy: duchenne type

text: Translocated chromosome

text: DMD

text: GM11024 female affected Muscular dystrophy: duchenne type sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21380 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Muscular dystrophy: duchenne type

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected female;X/autosome de novo balanced chromosome translocation;normal X chromosome is late replicating;at age 4 1/2 there was a normal gait;no lumbar lordosis;no Gower sign;weakness exhibited when climbing stairs;weak facial and shoulder girdle musculature;elevated CPK's ranging from 1260 to 4200;no dystrophin gene deletion or duplication detectable by PCR.

text: 46;X;t(X;4)(Xqter>Xp21::4q35>4qter;4pter>4q35::Xp21>Xpter);46;X;t(X;4)(Xqter>Xp21::4q35> 4qter;4pter>4q35::Xp21>Xpter).ish t(X;4)(4qtel11+;wcpX+;wcp+;4qtel11-)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Muscular dystrophy: duchenne type

characteristic: tag

text: Translocated chromosome

text: DMD

text: GM11025 female affected Muscular dystrophy: duchenne type sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 21 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21381 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Translocated chromosome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Stage IV;patient expired at age 16 months;at 15 months;developed 'raccoon eyes' and bone metastases;monolayer culture;which may pile up;grows slowly;originated from tumor tissue passaged in a nude mouse;47;X;-Y;+13;+19p+;9q-;11q-;19p+;pass 1 at CCR

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Nbs included

text: Nb neuroblastoma suppressor included

text: Translocated chromosome

text: Neuroblastoma

text: GM11027 male affected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 61 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND21382 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Translocated chromosome

text: 1 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Stage IV;patient expired at age 16 months;at 15 months;developed 'raccoon eyes' and bone metastases;suspension culture originated from tumor tissue passaged in a nude mouse;46;X;-Y;+13;9q-;11q-;19p+/47;X;-Y +13;+19p+;9q-;11q- (52%/44%);P7 at CCR

characteristic: description

text: proband

text: 46;X;-Y;+13;9q-;11q-;19p+/47;X;-Y;+13;+19p+;9q-;11q-

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Nbs included

text: Nb neuroblastoma suppressor included

text: Translocated chromosome

text: Neuroblastoma

text: GM11028 male affected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Recurrent metabolic acidosis;elevated urine 3-hydroxy-3-methylglutaric acid;developmental delay;decreased fine motor skills;short stature;deficient leukocyte HMG-CoA Lyase activity

text: Homo sapiens

text: Caucasian

text: Male

text: GM11030 male affected 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency sample


text: Coriell

text: live

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21383 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Rhodopsin-related included

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son is also affected;dominant sector RP;20 year history of photosensitivity;subnormal photopic ERG;inferior & nasal retinal degeneration with sparse pigmentation;C to A transversion in exon 1;codon 23;of the RHO (rhodopsin) gene Pro23His (P23H)

text: proband

text: RHO

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Retinitis pigmentosa - 180100, 268000 or 312600

text: Rho retinitis pigmentosa

text: Rhodopsin

text: Rhodopsin-related included

text: GM11031 female affected Rhodopsin-related included sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 60 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse & son have dominant RP;spouse of GM11031;father of GM11105

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: GM11032 male unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 21 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: identical twin brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21384 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Alagille syndrome

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Hepatoductular hypoplasia documented by laparotomy & liver biopsy;pulmonic stenosis;butterfly vertebrae;classic facies;malformation of iris (embryotoxon);polyarthritis;see GM11091 Fibro

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Alagille syndrome

text: AGS

text: GM11033 female affected Alagille syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Tourette syndrome

text: 9 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

characteristic: tag

text: ND21385 male affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: VENEZUELAN

characteristic: ethnicity

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/venezuelan pedigree 104

text: GM11035 male unaffected Ceph/venezuelan pedigree 104 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 47 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21386 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father

text: VENEZUELAN

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/venezuelan pedigree 104

text: GM11036 male unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21387 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: VENEZUELAN

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/venezuelan pedigree 104

text: GM11037 male unaffected Ceph/venezuelan pedigree 104 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21388 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 104

text: GM11038 female unaffected Ceph/venezuelan pedigree 104 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: parent

text: Homo sapiens

text: Caucasian

text: Male

text: Unrelated condition upon exam

text: ND21389 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Ceph/venezuelan pedigree 104

text: GM11039 female unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21390 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: VENEZUELAN

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/venezuelan pedigree 104

text: GM11040 female unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Tourette syndrome

characteristic: tag

text: ND21391 female affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 104

text: GM11041 female unaffected Ceph/venezuelan pedigree 104 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 34 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21392 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: VENEZUELAN

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/venezuelan pedigree 104

text: GM11042 male unaffected Ceph/venezuelan pedigree 104 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: African American

text: Male

text: Tourette syndrome

text: ND21395 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: VENEZUELAN

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/venezuelan pedigree 104

text: GM11043 female unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: tag

text: ND21396 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: VENEZUELAN

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/venezuelan pedigree 104

text: GM11044 female unaffected Ceph/venezuelan pedigree 104 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 12 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21397 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: VENEZUELAN

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ceph/venezuelan pedigree 104

text: GM11045 male unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21398 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Affected maternal grandfather;2 affected brothers;1 affected half-brother;and 3 affected cousins

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM11067 male affected Spinal and bulbar muscular atrophy, x-linked 1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND21399 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Affected maternal grandfather;brothers;half-brother;and cousins

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM11068 male affected Spinal and bulbar muscular atrophy, x-linked 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21400 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Alagille syndrome

text: 17 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hepatoductular hypoplasia documented by laparotomy & liver biopsy;pulmonic stenosis;butterfly vertebrae;classic facies;malformation of iris (embryotoxon);polyarthritis;see GM11033 Lymph

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Alagille syndrome

text: AGS

text: GM11091 female affected Alagille syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Finnish

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND21401 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Niemann-pick disease type c1

text: 17 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Progressive clumsiness;upgaze palsy;poor memory;mild slowness of speech and movement;tremor;dysmetria;increased tone in ankles;fibroblasts exhibit no esterification of exogenous cholesterol;46;XY;passage 3 at CCR

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Black

text: Male

text: Niemann-pick disease type c1

text: GM11095 male affected Niemann-pick disease type c1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND21402 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Sandhoff disease

text: 11 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;cherry-red maculae;macrocephalic;fibroblasts show a deficiency of beta-hexosaminidase A & B activities

text: Homo sapiens

text: Caucasian

text: Female

text: Sandhoff disease

text: GM11098 female affected Sandhoff disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21404 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: VENEZUELAN

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/venezuelan pedigree 104

text: GM11104 female unaffected Ceph/venezuelan pedigree 104 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21405 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Rhodopsin-related included

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: History of night blindness & visual field loss since age 18;RP diagnosed at age 23;barely recordable photopic ERG & nonrecordable rod-isolated & dark-adapted bright flash ERG;C to A transversion in exon 1;codon 23;of rhodopsin

characteristic: description

characteristic: family id

text: son

text: RHO

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Retinitis pigmentosa - 180100, 268000 or 312600

characteristic: tag

text: Rho retinitis pigmentosa

text: Rhodopsin

text: Rhodopsin-related included

text: GM11105 male affected Rhodopsin-related included sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 61 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21406 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 22 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;2 affected sons

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Phenylketonuria

text: GM11108 female unaffected Phenylketonuria sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

text: ND21408 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

text: Phenylketonuria

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: On dietary therapy;similarly affected brother;hyperphenylalaninemia;10th %ile for weight & 5th %ile for height

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Phenylketonuria

text: GM11109 male affected Phenylketonuria sample


text: Coriell

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND21409 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Phenylketonuria

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;on dietary therapy;hyperphenylalaninemia;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 1241 in exon 12 of the PAH gene 1241A>G resulting in a substitution of cysteine for tyrosine at codon 414 Tyr414Cys (Y414C) and a second allele has a splice site mutation at nucleotide 1315 IVS12+1G>A .

text: brother

text: PAH

characteristic: gene

characteristic: mutation

text: G>A

text: Homo sapiens

text: Caucasian

text: Male

text: Phenylketonuria

text: GM11110 male affected Phenylketonuria sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21410 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 1 DA

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Microcephaly;slight hypertelorism;micrognathia;wide nasal bridge and nares;short philtrum;cleft palate;retroplaced tongue;microretrognathia;low-set malformed ears;short neck;camptodactyly;rocker-bottom feet;13 ribs bilaterally

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Aneuploid chromosome number - trisomy

text: Aneuploid chromosome number - trisomy 9

text: GM11115 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: American Indian

characteristic: race

text: Female

characteristic: sex

text: Epilepsy

characteristic: tag

text: ND21412 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 19 FW

text: Amniotic fluid-derived cell line

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;normal ultrasound;normal fetal ECHO;46;XX;t(1;17) (1pter>1q21::17q25>17qter;17pter>17q25:: 1q21>1qter);balanced

characteristic: description

text: 46;XX;t(1;17)(1pter>1q21::17q25> 17qter;17pter>17q25::1q21>1qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM11149 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

text: NINDS Repository

text: Ashkenazi Jewish (on paternal side)

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND21413 male affected Tourette syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mennonite;similarly affected sister;E2 & E1a mRNAs present in normal size & abundance;E1a & E1b protein subunits are present in reduced amounts;E2 protein subunit is present in normal size & abundance

text: MENNONITE

text: Homo sapiens

text: Caucasian

text: Female

text: GM11150 female affected Maple syrup urine disease (msud) type ia sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Ashkenazi Jewish

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND21414 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Hirschsprung disease

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Heart tissue fibro cult;complex congenital heart anomalies;possible cerebral anomaly;small external genitalia;46;XX in PBL & fibro;Hirschsprung disease;neg for Yp (ZFY);Y centromere;& Yq (heterochromatic reg) sequences by PCR

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Hirschsprung disease

text: Xx male syndrome

text: GM11169 male affected Hirschsprung disease sample


text: Coriell

text: live

text: Generic

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND21415 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Phenylketonuria

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hyperphenylalaninemia;similarly affected brother;donor subject is a compound heterozygote: one allele has a 23-bp deletion at nucleotide 590 590_612del23 and a second allele has a splice site mutation at nucleotide 912 IVS8+1G>A .

text: proband

text: PAH

characteristic: gene

characteristic: mutation

text: 23-BP DEL

text: Homo sapiens

text: Caucasian

text: Male

text: Phenylketonuria

characteristic: tag

text: GM11195 male affected Phenylketonuria sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND21416 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Phenylketonuria

text: 6 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hyperphenylalaninemia

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Phenylketonuria

text: GM11196 male affected Phenylketonuria sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 15 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

text: ND21417 female affected Tourette syndrome sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Ellis-van creveld syndrome

text: 84 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;dwarfism;polydactyly;artificial dentures at age 45;2 affected children;father of GM11210

text: AMISH

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: EVC

text: Ellis-van creveld syndrome

text: GM11206 male affected Ellis-van creveld syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND21418 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Ellis-van creveld syndrome

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Amish;dwarfism;polydactyly;sunken upper lip;poor teeth;dysplastic fingernails;short distal extremities & relatively long proximal phalanges;3 affected paternal uncles;sister of GM11208

text: AMISH

text: cousin

text: Homo sapiens

text: Caucasian

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM11207 female affected Ellis-van creveld syndrome sample


text: Coriell

text: live

text: Generic

text: 43 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND21419 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Ellis-van creveld syndrome

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Amish;dwarfism;polydactyly;sunken upper lip;poor teeth;dysplastic fingernails;short distal extremities & relatively long proximal phalanges;3 affected paternal uncles;sister of GM11207

characteristic: description

text: AMISH

characteristic: family id

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: EVC

text: Ellis-van creveld syndrome

text: GM11208 female affected Ellis-van creveld syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: husband

text: Homo sapiens

text: Caucasian

text: Male

text: ND21420 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample