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Cellosaurus GM11576 (CVCL_H551)

[Text version]
Cell line name GM11576
Accession CVCL_H551
Resource Identification Initiative To cite this cell line use: GM11576 (RRID:CVCL_H551)
Comments Population: Caucasian; German.
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • Mutation; HGNC; HGNC:4976; HLCS; Simple; c.1519+5G>A (IVS10+5G>A); ClinVar=VCV000001912; Zygosity=Heterozygous (Coriell=GM11576).
  • Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Leu514Pro; Zygosity=Heterozygous (Coriell=GM11576).
Disease Holocarboxylase synthetase deficiency (NCIt: C98842)
Holocarboxylase synthetase deficiency (ORDO: Orphanet_79242)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 16FW
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM11576
Cell line databases/resources CLO; CLO_0021225
Encyclopedic resources Wikidata; Q54845162
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number16