Cellosaurus cell line UKMi001-A (CVCL

Cross-references
Cell line name	UKMi001-A
Synonyms	CRLF1-iPSC-C1
Accession	CVCL_YT49
Resource Identification Initiative	To cite this cell line use: UKMi001-A (RRID:CVCL_YT49)
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; 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_YT50 ! UKMi001-B 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)
Cell line databases/resources	hPSCreg; UKMi001-A
Encyclopedic resources	Wikidata; Q98133972
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8