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Cellosaurus UBCi002-A (CVCL_C9IB)

[Text version]
Cell line name UBCi002-A
Accession CVCL_C9IB
Resource Identification Initiative To cite this cell line use: UBCi002-A (RRID:CVCL_C9IB)
Comments From: University of British Columbia; Vancouver; Canada.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8514; CLDN11; Simple; p.Ter208Glnext*39 (c.622T>C); ClinVar=VCV001106668; Zygosity=Heterozygous (PubMed=37531724).
Disease Hypomyelinating leukodystrophy-22 (NCIt: C201587)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=37531724; DOI=10.1016/j.scr.2023.103174
Ozgoren O.K., Sequiera G.L., Ferrari Bardile C., Gjervan S.C., Salman A., Lehman A., Turvey S.E., Ross C.J.D., Stockler S., Pouladi M.A.
Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).
Stem Cell Res. 71:103174-103174(2023)

Cross-references
Cell line databases/resources hPSCreg; UBCi002-A
Biological sample resources BioSamples; SAMEA112937624
Encyclopedic resources Wikidata; Q123033673
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2