Cellosaurus cell line UBCi002-A (CVCL

Cross-references
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; 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 Oguz Kan Ozgoren, Glen Lester Sequiera, Costanza Ferrari Bardile, Sophia C. Gjervan, Areesha Salman, Anna Lehman, Stuart E. Turvey, Colin J.D. Ross, Sylvia Stockler, Mahmoud A. Pouladi; Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22). Stem Cell Res. 71:103174-103174(2023)
Cell line databases/resources	hPSCreg; UBCi002-A
Biological sample resources	BioSamples; SAMEA112937624
Encyclopedic resources	Wikidata; Q123033673
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3