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Cellosaurus GM14609 (CVCL_0R45)

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Cell line name GM14609
Accession CVCL_0R45
Resource Identification Initiative To cite this cell line use: GM14609 (RRID:CVCL_0R45)
Comments Population: Puerto Rican.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5163; HPS1; Simple; p.His497Glnfs*90 (c.1472_1487dup16); ClinVar=VCV000005277; Zygosity=Homozygous (Coriell=GM14609).
Disease Hermansky-Pudlak syndrome 1 (NCIt: C150367)
Hermansky-Pudlak syndrome with pulmonary fibrosis (ORDO: Orphanet_231500)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DQ88 (CHOPHPS1)
Originate from same individual CVCL_0R44 ! GM14606
Sex of cell Female
Age at sampling 26Y
Category Finite cell line
Publications

PubMed=27345974; DOI=10.1016/j.scr.2016.01.014
Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Alyssa L. Gagne, Paul Gadue, Deborah L. French;
Generation of Hermansky-Pudlak syndrome type 1 (HPS1) induced pluripotent stem cells (iPSCs).
Stem Cell Res. 16:233-235(2016)

Cross-references
Cell line collections (Providers) Coriell; GM14609
Cell line databases/resources CLO; CLO_0031663
Encyclopedic resources Wikidata; Q54847338
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14