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Cellosaurus UKMi001-B (CVCL_YT50)

[Text version]
Cell line name UKMi001-B
Synonyms CRLF1-iPSC-C4
Accession CVCL_YT50
Resource Identification Initiative To cite this cell line use: UKMi001-B (RRID:CVCL_YT50)
Comments From: Muenster University Children's Hospital; Muenster; Germany.
Population: Turkish.
Derived from site: In situ; Nose; UBERON=UBERON_0000004.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 2364; CRLF1; Simple; p.Pro238Argfs*6 (c.708_709delinsT); ClinVar=VCV000005712; Zygosity=Homozygous (PubMed=32492556).
Disease Crisponi/cold-induced sweating syndrome-1 (NCIt: C173147)
Crisponi syndrome (ORDO: Orphanet_1545)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YT49 ! UKMi001-A
CVCL_YT51 ! UKMi001-C
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=32492556; DOI=10.1016/j.scr.2020.101820
Schoning L., Loges N.T., Nitschke Y., Hoben I.M., Ropke A., Crisponi L., Omran H., Rutsch F., Buers I.
Generation of induced pluripotent stem cell lines from a Crisponi/cold induced sweating syndrome type 1 individual.
Stem Cell Res. 46:101820-101820(2020)

Cross-references
Cell line databases/resources hPSCreg; UKMi001-B
Encyclopedic resources Wikidata; Q98133977
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7