ID   SZ-CIPA1
AC   CVCL_Y324
SY   SZ-CIPA1 PGD; CIPA#1
DR   NIHhESC; NIHhESC-20-0415
DR   Wikidata; Q54971298
RX   PubMed=21585244;
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0415.
CC   Sequence variation: Mutation; HGNC; HGNC:8031; NTRK1; Simple; p.Pro621Serfs*12 (c.1860_1861insT) (1926insT) (p.Pro585fs, c.1752_1753insT); ClinVar=VCV000021306; Zygosity=Unspecified (PubMed=21585244).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C118633; Neuropathy, hereditary sensory and autonomic, type IV
DI   ORDO; Orphanet_642; Hereditary sensory and autonomic neuropathy type 4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=21585244; DOI=10.1089/scd.2011.0102; PMCID=PMC3272241;
RA   Ben-Yosef D., Amit A., Malcov M., Frumkin T., Ben-Yehudah A.,
RA   Eldar I., Mey-Raz N., Azem F., Altarescu G., Renbaum P., Beeri R.,
RA   Varshaver I., Eldar-Geva T., Epsztejn-Litman S., Levy-Lahad E.,
RA   Eiges R.;
RT   "Female sex bias in human embryonic stem cell lines.";
RL   Stem Cells Dev. 21:363-372(2012).
//