ID   UKMi001-C
AC   CVCL_YT51
SY   CRLF1-iPSC-C6
DR   hPSCreg; UKMi001-C
DR   Wikidata; Q98133980
RX   PubMed=32492556;
CC   From: Muenster University Children's Hospital; Muenster; Germany.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:2364; CRLF1; Simple; p.Pro238Argfs*6 (c.708_709delinsT); ClinVar=VCV000005712; Zygosity=Homozygous (PubMed=32492556).
CC   Derived from site: In situ; Nose; UBERON=UBERON_0000004.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C173147; Crisponi/cold-induced sweating syndrome-1
DI   ORDO; Orphanet_1545; Crisponi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YT49 ! UKMi001-A
OI   CVCL_YT50 ! UKMi001-B
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32492556; DOI=10.1016/j.scr.2020.101820;
RA   Schoning, Lara
RA   Loges, Niki Tomas
RA   Nitschke, Yvonne
RA   Hoben, Inga Marlena
RA   Ropke, Albrecht
RA   Crisponi, Laura
RA   Omran, Heymut
RA   Rutsch, Frank
RA   Buers, Insa
RT   "Generation of induced pluripotent stem cell lines from a
RT   Crisponi/cold induced sweating syndrome type 1 individual.";
RL   Stem Cell Res. 46:101820-101820(2020).
//