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Cellosaurus GM09705 (CVCL_AA86)

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Cell line name GM09705
Accession CVCL_AA86
Resource Identification Initiative To cite this cell line use: GM09705 (RRID:CVCL_AA86)
Comments Caution: Indicated as originating from a 1 year old female child in Coriell, but seems to contain both male and female cells (PubMed=33485181).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous; Note=Allele UGT1A1*2 (from child cell line HHUUKDi005-A).
Disease Crigler-Najjar syndrome (NCIt: C84656)
Crigler-Najjar syndrome (ORDO: Orphanet_205)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WJ48 (HHUUKDi005-A)
Sex of cell Mixed sex
Age at sampling Age unspecified
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)

PubMed=33485181; DOI=10.1016/j.scr.2021.102167
Nina Graffmann, Soraia Martins, Tijana Ljubikj, Julie Carole Matte, Martina Bohndorf, Wasco Wruck, James Adjaye;
Generation of a Crigler-Najjar syndrome type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A).
Stem Cell Res. 51:102167-102167(2021)

Cross-references
Cell line collections (Providers) Coriell; GM09705
Cell line databases/resources CLO; CLO_0026596
Encyclopedic resources Wikidata; Q54843971
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11