ID   TRNDi029-A
AC   CVCL_A8NS
SY   NCATS-CL4870; HT822A; GM28558; GM28558*B
DR   Coriell; GM28558
DR   hPSCreg; TRNDi029-A
DR   Wikidata; Q108821398
RX   PubMed=34087995;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
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)
HI   CVCL_U944 ! GM05759
SX   Female
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 30-01-24; Version: 7
//
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).
//