Cellosaurus cell line UKMi002-C (CVCL

Cross-references
Cell line name	UKMi002-C
Synonyms	CLCF1-iPSC-C19
Accession	CVCL_ZL86
Resource Identification Initiative	To cite this cell line use: UKMi002-C (RRID:CVCL_ZL86)
Comments	From: Muenster University Children's Hospital; Muenster; Germany. Population: Caucasian. Derived from site: In situ; Nose; UBERON=UBERON_0000004. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; 17412; CLCF1; Simple; p.Tyr107Ter (c.321C>G); ClinVar=VCV000002930; Zygosity=Homozygous (PubMed=32512309).
Disease	Crisponi/cold-induced sweating syndrome-2 (NCIt: C173148) Crisponi syndrome (ORDO: Orphanet_1545)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_ZL84 ! UKMi002-A CVCL_ZL85 ! UKMi002-B
Sex of cell	Male
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=32512309; DOI=10.1016/j.scr.2020.101855 Buers I., Schoning L., Loges N.T., Nitschke Y., Hoben I.M., Ropke A., Crisponi L., Omran H., Rutsch F. Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line. Stem Cell Res. 46:101855-101855(2020)
Encyclopedic resources	Wikidata; Q98133992
Entry history
Entry creation	02-Jul-2020
Last entry update	29-Jun-2023
Version number	6