ID   GM05759
AC   CVCL_U944
DR   CLO; CLO_0024658
DR   Coriell; GM05759
DR   Wikidata; Q54841934
RX   CelloPub=CLPUB00447;
RX   PubMed=34087995;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6188; JAG1; Simple; p.Arg465Arg (c.1395G>T) (chr20:g.10629709C>A); Zygosity=Heterozygous; Note=Splice site mutation (PubMed=34087995).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35139; Alagille syndrome
DI   ORDO; Orphanet_52; Alagille syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=34087995; DOI=10.1016/j.scr.2021.102366;
RA   Zhu W., Cheng Y.-S., Xu M., Farkhondeh A., Beers J.K., Zou J.-H.,
RA   Liu C.-Y., Baumgartel K., Rodems S., Zheng W.;
RT   "Generation of Alagille syndrome derived induced pluripotent stem cell
RT   line carrying heterozygous mutation in the JAGGED-1 gene at splicing
RT   site (Chr20: 10,629,709C>A) before exon 11.";
RL   Stem Cell Res. 53:102366-102366(2021).
//